MedWorm: Apert Syndrome

Health-related problems and quality of life in patients with syndromic and complex craniosynostosis

Child's Nervous System — Tue, 10 Jan 2012 17:00:53 +0100

Conclusions The overall quality of life is lower in patients with syndromic and complex craniosynostosis. To improve quality of life, more attention is needed for problems with vision and speech. Content Type Journal ArticleCategory Original PaperPages 1-4DOI 10.1007/s00381-012-1681-4Authors Tim de Jong, Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, Sophia Children’s Hospital, Room Ee 15.91, Dr. Molewaterplein 50, 3015 GE Rotterdam, The NetherlandsMarianne Maliepaard, Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, Sophia Children’s Hospital, Room Ee 15.91, Dr. Molewaterplein 50, 3015 GE Rotterdam, The NetherlandsNatalja Bannink, Department of Pla...

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The Apert Hand—Angiographic Planning of a Single-Stage, 5-Digit Release for All Classes of Deformity

The Journal of Hand Surgery — Thu, 29 Dec 2011 03:44:44 +0100

Conclusions: The protocol presented allows preoperative planning and single-stage operation for complete release of syndactyly in patients with Apert syndrome. (Source: The Journal of Hand Surgery)

Apert syndrome mutant FGFR2 and its soluble form reciprocally alter osteogenesis of primary calvarial osteoblasts

Journal of Cellular Physiology — Mon, 21 Nov 2011 05:00:00 +0100

In this study, we characterized the effects of one of the mutations (S252W) using primary calvarial osteoblasts derived from transgenic mice, Ap‐Tg and sAp‐Tg, that expressed an Apert‐type mutant FGFR2 (FGFR2IIIc‐S252W; FGFR2IIIc‐Ap), and the soluble form (extracellular domain only) of the mutant FGFR2 (sFGFR2IIIc‐Ap), respectively. Compared to WT‐derived osteoblasts, osteoblasts from Ap‐Tg mouse showed a higher proliferative activity and enhanced differentiation, while those from sAp‐Tg mouse exhibited reduced potential for proliferation and osteogenic differentiation. When transplanted with β‐tricalcium phosphate (β‐TCP) granules into immunodeficient mice, Ap‐Tg‐derived osteoblasts showed a higher bone forming capacity, whereas sAp‐Tg‐derived osteoblasts w...

Fronto-facial monobloc distraction in syndromic craniosynostosis. Three-dimensional evaluation of treatment outcome and facial growth

International Journal of Oral and Maxillofacial Surgery — Thu, 17 Nov 2011 05:00:00 +0100

The objectives of this study were to investigate the treatment effect and stability of fronto-facial monobloc distraction osteogenesis. Five consecutive patients who underwent monobloc distraction were included (aged 4.8–18.4 years). Three patients had Crouzon syndrome, one had Apert syndrome, and one had Pfeiffer syndrome. The evaluation included clinical records, serial cephalograms for at least 1-year follow up (average 24.6 months). The treatment and post-treatment changes were measured. The intracranial volume, upper airway volume and globe protrusion were calculated from CT before and after treatment. After distraction, the supraorbital region was advanced 15.3mm forward, the midface demonstrated forward advancement of 17.7mm, 22.1mm and 23.1mm at orbitale, anterior nasal spine and...

Brain and ventricular volume in patients with syndromic and complex craniosynostosis

Child's Nervous System — Wed, 19 Oct 2011 15:45:08 +0100

Conclusions Patients with syndromic craniosynostosis have a normal total brain volume compared to normal controls. Increased ventricular volume is associated with Apert syndrome and Chiari I malformations, which is most commonly found in Crouzon syndrome. We advice screening of all patients with Apert and Crouzon syndrome for the development of enlarged ventricle volume and the presence of a Chiari I malformation. Content Type Journal ArticleCategory Original PaperPages 1-4DOI 10.1007/s00381-011-1614-7Authors T. de Jong, Department of Plastic and Reconstructive Surgery, and Hand Surgery, Sophia Children’s Hospital, Erasmus University Medical Center, Rotterdam, The NetherlandsB. F. M. Rijken, Department of Plastic and Reconstructive Surgery, and Hand Surgery, Soph...

Assessment of White Matter Microstructural Integrity in Children with Syndromic Craniosynostosis: A Diffusion-Tensor Imaging Study [Neuroradiology]

Radiology — Wed, 19 Oct 2011 04:00:00 +0100

Conclusion: Diffusion-tensor imaging measurements of white matter tracts reveal significant white matter integrity differences between children with craniosynostosis and healthy control subjects. This could imply that the developmental delays seen in these patients could be caused by the presence of a primary disorder of the white matter microarchitecture. © RSNA, 2011 (Source: Radiology)

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Craniosynostosis genetics: The mystery unfolds

Indian Journal of Human Genetics — Mon, 17 Oct 2011 04:00:00 +0100

Inusha PanigrahiIndian Journal of Human Genetics 2011 17(2):48-53Craniosynsostosis syndromes exhibit considerable phenotypic and genetic heterogeneity. Sagittal synostosis is common form of isolated craniosynostosis. The sutures involved, the shape of the skull and associated malformations give a clue to the specific diagnosis. Crouzon syndrome is one of the most common of the craniosynostosis syndromes. Apert syndrome accounts for 4.5% of all craniosynostoses and is one of the most serious of these syndromes. Most syndromic craniosynostosis require multidisciplinary management. The following review provides a brief appraisal of the various genes involved in craniosynostosis syndromes, and an approach to diagnosis and genetic counseling. (Source: Indian Journal of Human Genetics)

Maxillary-midface distraction

International Journal of Oral and Maxillofacial Surgery — Sat, 01 Oct 2011 04:00:00 +0100

Aim: The midface or the maxilla in syndromatic patients as cleft lip and palate, crouzon or Apert syndrome can be severely retruded and hypoplastic in antero posterior and vertical dimension make difficult to correct in proper three-dimensional mode. In cleft lip and palate patients that need large advancement, the maxilla can be difficult to mobilize due to scarring from previous operations and there is a tendency to relapse after conventional orthognathic surgery. Based on research and clinical experience, distraction osteogenesis has minimal tendency to relapse even after great skeletal movements, due to the new bone formed in the distraction gap. In this presentation we will demonstrate our experience using internal and external devices in maxillary deficiency. (Source: International J...

Experience with intracranial volume increase in craniosynostosis using posterior cranial vault distraction osteogenesis

International Journal of Oral and Maxillofacial Surgery — Sat, 01 Oct 2011 04:00:00 +0100

Aim: To study distraction osteogenesis of the posterior cranial vault in children requiring increased intracranial volume. Materials and methods: Ten patients were treated with cranial distractors. Five children had previously been operated for scaphocephaly and one child for Saether Chotzen syndrome. Two patients had bilateral coronal suture synostosis with Muenke syndrome and two patients had Apert syndrome. At surgery cranial bones were mobilized, the head was widened during surgery, and the segments fixed to each other with distarctors. Further expansion at a rate of 1mm/day was performed over 2–4 weeks. The cranium was distracted posteriorly from 20 to 30mm. (Source: International Journal of Oral and Maxillofacial Surgery)

A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

BMC Medical Genetics - Latest articles — Fri, 23 Sep 2011 04:00:00 +0100

Conclusions: Based on the known pathogenesis of Apert syndrome, the chimeric FGFR2 protein is predicted to act in a dominant gain-of-function manner. This is likely to result from its expression in mesenchymal tissues, where retention of most of the residues essential for FGFR2b binding activity would result in autocrine activation. This report adds to the repertoire of rare cases of Apert syndrome for which a pathogenesis based on atypical FGFR2 rearrangements can be demonstrated. (Source: BMC Medical Genetics - Latest articles)

Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis

Journal of Cellular Biochemistry — Fri, 16 Sep 2011 04:00:00 +0100

In this study, we reported and functionally analyzed a novel mutation of the FGFR2 gene found in a craniosynostosis patient, E731K. The mutation is in the 2nd tyrosine kinase domain in the C‐terminal cytoplasmic region of the molecule. The mutation caused an enhanced phosphorylation of the FGFR2E731K and ERK‐MAP kinase, the stimulation of transcriptional activity of Runx2, and consequently, the enhancement of osteogenic marker gene expression. We conclude that the substitution of E731K in FGFR2 is a novel mutation that resulted in a constitutive activation of the receptor and ultimately resulted in premature suture obliteration. J. Cell. Biochem. © 2011 Wiley‐Liss, Inc. (Source: Journal of Cellular Biochemistry)

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Assessment of White Matter Microstructural Integrity in Children with Syndromic Craniosynostosis: A Diffusion-Tensor Imaging Study [Neuroradiology]

Continuous Publishing articles — Wed, 17 Aug 2011 23:00:00 +0100

Audiological Profile of Children and Young Adults With Syndromic and Complex Craniosynostosis [Original Article]

Archives of Otolaryngology — Sun, 14 Aug 2011 23:00:00 +0100

Conclusions Most patients with syndromic and complex craniosynostosis have recurrent otitis media with effusion, causing episodes of conductive hearing loss throughout their lives. Sensorineural hearing loss can occur in all 4 syndromes studied but is the primary cause of hearing loss in children and young adults with Muenke syndrome. For patients with these syndromes, we recommend routine visits to the general practitioner or otolaryngologist, depending on national standards of care, to screen for otitis media with effusion throughout life. We also advise early screening for sensorineural hearing loss among children and young adults with these syndromes. (Source: Archives of Otolaryngology)

Usefulness of Airtraq in a 3-month-old child with Apert Syndrome.

Paediatric Anaesthesia — Mon, 08 Aug 2011 18:36:08 +0100

Authors: Sbaraglia F, Lorusso R, Garra R, Sammartino M PMID: 21793981 [PubMed - in process] (Source: Paediatric Anaesthesia)

Usefulness of Airtraq in a 3‐month‐old child with Apert Syndrome

Pediatric Anesthesia — Wed, 27 Jul 2011 21:43:53 +0100

(Source: Pediatric Anesthesia)

Congenital diaphragmatic hernia as prenatal presentation of Apert syndrome

Prenatal Diagnosis — Sun, 26 Jun 2011 23:00:00 +0100

(Source: Prenatal Diagnosis)

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Dental agenesis patterns of permanent teeth in Apert syndrome

European Journal of Oral Sciences — Mon, 25 Apr 2011 23:00:00 +0100

In conclusion, patients with Apert syndrome were found to exhibit a high prevalence of dental agenesis. All dental agenesis patterns in which more than one tooth was missing were symmetrical. (Source: European Journal of Oral Sciences)

[Foreign body granuloma due to Horsley wax(®).]

Revue de Stomatologie et de Chirurgie Maxillo-Faciale — Wed, 23 Mar 2011 00:00:00 +0100

We report three cases of foreign body granulomas due to bone wax. A 14-years-old female patient with an Apert syndrome underwent Le Fort III osteotomy and distraction osteogenesis; 3years later, an inflammatory granuloma appeared in the temporal area. A 23-years-old female patient, traffic accident casualty, complained about pain in the hip 1year after undergoing cervical spine surgery with iliac bone graft. A 35-years-old female patient underwent rhinoplasty with anterior nasal aperture surgery. She presented with an inflammatory reaction requiring several subsequent surgeries. DISCUSSION: Using Horsley wax(®) must be performed according to recommendations so as to prevent inflammatory or infectious complications, and to allow good bone healing. Surgeons must mention its use in the surgi...

Human Testes May Multiply Mutations

NIGMS - Results — Tue, 22 Mar 2011 20:17:09 +0100

NIGMS-supported biologists suggest that natural selection may favor the development of germline cells that carry a mutation causing Apert syndrome. (Source: NIGMS - Results)

Identification and characterization of an inhibitory Fibroblast growth factor receptor 2 (FGFR2) molecule, upregulated in an Apert Syndrome mouse model

BJ Disease — Mon, 28 Feb 2011 00:00:00 +0100

Apert syndrome (AS) is a congenital disease composed of skeletal, visceral and neural abnormalities, caused by dominant-acting mutations in FGFR2. Multiple FGFR2 splice variants are generated through alternative splicing, including premature termination codon (PTC)-containing transcripts that are normally eliminated via the nonsense mediated decay (NMD) pathway. We have discovered that a soluble truncated FGFR2 molecule encoded by a PTC-containing transcript is upregulated and persists in tissues of an Apert syndrome mouse model. We have termed this IIIa-TM as it arises from aberrant splicing of FGFR2 exon 7 (IIIa) into exon 10 (transmembrane domain). IIIa-TM is glycosylated and can modulate the binding of FGF1 to FGFR2 molecules in BIAcore binding assays. We also show that IIIa-TM can neg...

Identification and characterization of an inhibitory Fibroblast growth factor receptor 2 (FGFR2) molecule, upregulated in an Apert Syndrome mouse model.

The Biochemical Journal — Mon, 28 Feb 2011 00:00:00 +0100

Authors: Wheldon LM, Khodabukus N, Patey SJ, Smith TG, Heath J, Hajihosseini MK Apert syndrome (AS) is a congenital disease composed of skeletal, visceral and neural abnormalities, caused by dominant-acting mutations in FGFR2. Multiple FGFR2 splice variants are generated through alternative splicing, including premature termination codon (PTC)-containing transcripts that are normally eliminated via the nonsense mediated decay (NMD) pathway. We have discovered that a soluble truncated FGFR2 molecule encoded by a PTC-containing transcript is upregulated and persists in tissues of an Apert syndrome mouse model. We have termed this IIIa-TM as it arises from aberrant splicing of FGFR2 exon 7 (IIIa) into exon 10 (transmembrane domain). IIIa-TM is glycosylated and can modulate the binding of ...

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Visual field loss in children with craniosynostosis

Child's Nervous System — Fri, 28 Jan 2011 20:31:02 +0100

Conclusion Although we may speculate about the mechanisms that cause visual field deficits, we currently are unable to explain the reason for the differing types and extent of visual field loss in the different syndromic groups. We can conclude that the visual field deficits do indicate previous or ongoing visual dysfunction that cannot be monitored employing central vision tests alone. Content Type Journal ArticlePages 1-8DOI 10.1007/s00381-010-1378-5Authors Alki Liasis, The Clinical and Academic Department of Ophthalmology, Great Ormond St Hospital for Children, London, UKBronwen Walters, The Clinical and Academic Department of Ophthalmology, Great Ormond St Hospital for Children, London, UKDorothy Thompson, The Clinical and Academic Department of Ophthalmology, ...

Apert syndrome

Journal of Indian Society of Pedodontics and Preventive Dentistry — Tue, 25 Jan 2011 00:00:00 +0100

Premalatha , VP Kannan, Madhu Journal of Indian Society of Pedodontics and Preventive Dentistry 2010 28(4):322-325Apert syndrome (acrocephalosyndactyly) is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactyl...

Detection of the S252W mutation in fibroblast growth factor receptor 2 (FGFR2) in fetal DNA from maternal plasma in a pregnancy affected by Apert syndrome

Prenatal Diagnosis — Tue, 04 Jan 2011 00:00:00 +0100

(Source: Prenatal Diagnosis)

Acne‐associated syndromes: models for better understanding of acne pathogenesis

Journal of the European Academy of Dermatology and Venereology — Wed, 29 Dec 2010 00:00:00 +0100

AbstractAcne, one of the most common skin disorders, is also a cardinal component of many systemic diseases or syndromes. Their association illustrates the nature of these diseases and is indicative of the pathogenesis of acne. Congenital adrenal hyperplasia (CAH) and seborrhoea‐acne‐hirsutism‐androgenetic alopecia (SAHA) syndrome highlight the role of androgen steroids, while polycystic ovary (PCO) and hyperandrogenism‐insulin resistance‐acanthosis nigricans (HAIR‐AN) syndromes indicate insulin resistance in acne. Apert syndrome with increased fibroblast growth factor receptor 2 (FGFR2) signalling results in follicular hyperkeratinization and sebaceous gland hypertrophy in acne. Synovitis‐acne‐pustulosis‐hyperostosis‐osteitis (SAPHO) and pyogenic arthritis‐pyoderma g...

Beyond the Closed Suture in Apert Syndrome Mouse Models: Evidence of Primary Effects of FGFR2 Signaling on Facial Shape at Birth

Developmental Dynamics — Thu, 23 Dec 2010 02:20:37 +0100

AbstractSuperimposed 3D visualization of the skull and head of mutant and non‐mutant littermates of the FGFR2 P253R mouse model at birth (P0). Lateral views of skeletal bone reconstructed from μCT isosurfaces are displayed. Skin surfaces are visualized from volume renderings; red (top left): Fgfr2+/+ non‐mutant littermate of the P253R model; and green (bottom right): Fgfr2+/P253R mutant littermate. From Martínez‐Abadías et al., Developmental Dynamics 239:3058–3071, 2010. (Source: Developmental Dynamics)

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The primary site of the acrocephalic feature in Apert syndrome is a dwarf cranial base with accelerated chondrocytic differentiation due to aberrant activation of the FGFR2 signaling

Bone — Wed, 15 Dec 2010 00:00:00 +0100

In this report, we strongly suggest that the acrocephalic feature of AS is not alone a result of the coronal suture synostosis, but is a result of the primary disturbance in growth of the cranial base with precocious endochondral ossification.Research Highlights: ► Expression of Apert-type mutant Fgfr2IIIc in chondrocytes reproduced acrocephaly. ► Upregulation of p21, Ihh, Mmp-13 indicated acceleration of endochondral ossification. ► The acrocephalic feature is not alone a result of the coronal synostosis. ► It is primarily due to the precocious endochondral ossification in the cranial base. (Source: Bone)

Posterior cranial vault distraction osteogenesis in craniosynostosis: estimated increases in intracranial volume

Child's Nervous System — Thu, 02 Dec 2010 06:43:23 +0100

Conclusions This preliminary series shows that cranial bone distraction is a useful method for cranial expansion with low morbidity in children with craniosynostosis. Content Type Journal ArticleDOI 10.1007/s00381-010-1353-1Authors Willy S. Serlo, Pediatric Surgery, University of Oulu, Oulu, FinlandLeena P. Ylikontiola, Institute of Dentistry, University of Oulu, Oulu, FinlandNiina Lähdesluoma, Resident in Neurosurgery, Oulu University Hospital, Oulu, FinlandOlli-Pekka Lappalainen, Oral and Maxillofacial Surgeon, Department of Oral and Maxillofacial Surgery, Institute of Dentistry, University of Oulu and Oulu University Hospital, Oulu, FinlandJarkko Korpi, Department of Oral and Maxillofacial Surgery, Institute of Dentistry, University of Oulu and Oulu University Ho...

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis

Journal of Medical Genetics — Mon, 22 Nov 2010 00:00:00 +0100

Conclusions Common modules of altered gene expression shared by genetically distinct forms of craniosynostosis were identified. Although the expression profiles cannot currently be used to classify individual patients, this may be overcome by using more sensitive assays and sampling additional tissues. (Source: Journal of Medical Genetics)

Perioperative complications in children with Apert syndrome: a review of 509 anesthetics.

Paediatric Anaesthesia — Mon, 15 Nov 2010 00:00:00 +0100

Conclusions: We found there to be a low incidence of major perioperative major complications in this group of patients. Nevertheless, a significant proportion of these children have obstructive sleep apnoea and may develop supraglottic airway obstruction on induction and emergence from anesthesia due to the associated mid-face anatomical abnormalities. PMID: 21073626 [PubMed - as supplied by publisher] (Source: Paediatric Anaesthesia)

Apert syndrome

Indian Journal of Dermatology, Venereology and Leprology — Fri, 12 Nov 2010 00:00:00 +0100

Reza Yaghoobi, Nooshin Bagherani, Mahru Tajalli, Nader PaziarIndian Journal of Dermatology, Venereology, and Leprology 2010 76(6):724-724 (Source: Indian Journal of Dermatology, Venereology and Leprology)

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Perioperative complications in children with Apert syndrome: a review of 509 anesthetics

Pediatric Anesthesia — Mon, 01 Nov 2010 00:00:00 +0100

Conclusions: We found there to be a low incidence of major perioperative major complications in this group of patients. Nevertheless, a significant proportion of these children have obstructive sleep apnoea and may develop supraglottic airway obstruction on induction and emergence from anesthesia due to the associated mid‐face anatomical abnormalities. (Source: Pediatric Anesthesia)

The maxilla-nasion-mandible angle: a new method to assess profile anomalies in pregnancy.

The Ultrasound Review of Obstetrics and Gynecology — Sun, 03 Oct 2010 23:00:00 +0100

CONCLUSIONS: The feasibility and reproducibility of the MNM angle is good. The MNM angle can be used to evaluate the convexity of the fetal profile by enabling an objective assessment of the anteroposterior relationship of the jaws and it may therefore be of help in the diagnosis of retrognathia, maxillar alveolar ridge interruption and flat profile. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd. PMID: 20922777 [PubMed - as supplied by publisher] (Source: The Ultrasound Review of Obstetrics and Gynecology)

Maxilla–nasion–mandible angle: a new method to assess profile anomalies in pregnancy

Ultrasound in Obstetrics and Gynecology — Sun, 03 Oct 2010 23:00:00 +0100

ConclusionsThe feasibility and reproducibility of measurement of the MNM angle is good. The MNM angle can be used to evaluate the convexity of the fetal profile by enabling an objective assessment of the anteroposterior relationship of the jaws and it may therefore be of help in the diagnosis of retrognathia, maxillary alveolar ridge interruption and flat profile. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd. (Source: Ultrasound in Obstetrics and Gynecology)

Beyond the closed suture in apert syndrome mouse models: Evidence of primary effects of FGFR2 signaling on facial shape at birth

Developmental Dynamics — Tue, 31 Aug 2010 23:00:00 +0100

Abstract (Source: Developmental Dynamics)

Textiloma of the frontal bone twenty years after craniotomy for Apert syndrome

Journal of Cranio-Maxillofacial Surgery — Mon, 23 Aug 2010 00:00:00 +0100

Conclusion: Foreign body granulomas, although rare, must always be taken under consideration in the differential diagnosis of craniofacial masses or procedures; especially in cases where a previous craniofacial operation has taken place. (Source: Journal of Cranio-Maxillofacial Surgery)

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Orthodontic and orthognathic management of a patient with Apert syndrome: a case report [Clinical Section]

Journal of Orthodontics — Mon, 21 Jun 2010 23:00:38 +0100

This case report describes the combined orthodontic and orthognathic management of a 14-year-old girl affected with Apert syndrome. She presented with a severe Class III skeletal relationship, midfacial hypoplasia and an large anterior open bite. Intraorally, she had severe crowding, a narrow maxilla and lateral posterior crossbites. The patient was treated with a combination of removable and fixed appliances, a transpalatal skeletal distractor and Le Fort I surgery. The extraoral characteristics improved and a good occlusal relationship between maxillary and mandibular teeth was achieved. (Source: Journal of Orthodontics)

Dynamic morphological changes in the skulls of mice mimicking human Apert syndrome resulting from gain-of-function mutation of FGFR2 (P253R).

Journal of Anatomy — Wed, 16 Jun 2010 23:00:00 +0100

Authors: Du X, Weng T, Sun Q, Su N, Chen Z, Qi H, Jin M, Yin L, He Q, Chen L Abstract Apert syndrome is caused mainly by gain-of-function mutations of fibroblast growth factor receptor 2. We have generated a mouse model (Fgfr2(+/P253R)) mimicking human Apert syndrome resulting from fibroblast growth factor receptor 2 Pro253Arg mutation using the knock-in approach. This mouse model in general has the characteristic skull morphology similar to that in humans with Apert syndrome. To characterize the detailed changes of form in the overall skull and its major anatomic structures, euclidean distance matrix analysis was used to quantitatively compare the form and growth difference between the skulls of mutants and their wild-type controls. There were substantial morphological differences bet...

Occipital expansion without osteotomies in Apert syndrome

Child's Nervous System — Thu, 08 Apr 2010 18:00:09 +0100

Conclusions Spring expansion of the patent lambdoid suture is an alternative technique to expand the posterior cranial fossa. Compared to current techniques it has very low morbidity. Occipital expansion is thought to treat several of the mechanisms responsible for raised intracranial pressure in Apert syndrome. When performed at 6 months of age it has enabled us to delay the time at which we would normally perform frontal advancement surgery until a time when the surgical result is likely to be more stable. Content Type Journal ArticleCategory Original PaperDOI 10.1007/s00381-010-1144-8Authors Charles Davis, Central and Southern New Zealand Craniofacial Program PO Box 45140 Wellington 5042 New ZealandMartin R. MacFarlane, Central and Southern New Zealand Cr...

Internal carotid dissection after Le Fort III distraction in Apert syndrome: A case report

Journal of Cranio-Maxillofacial Surgery — Mon, 22 Mar 2010 00:00:00 +0100

Summary: A 10-year-old girl with Apert syndrome underwent a Le Fort III osteotomy with the positioning of internal and external distraction devices. The operation was straightforward with no intraoperative complications. Very soon after completion of surgery an anisocoria (unilateral dilation of a pupil) was noticed. This was followed by intracranial oedema which was fatal. The aetiology was dissection of the right internal carotid artery is reported. The complications of Le Fort osteotomies are discussed regarding patients with complex syndromal craniosynostosis and midface hypoplasia, such as Apert syndrome. (Source: Journal of Cranio-Maxillofacial Surgery)

Health-related quality of life in children and adolescents with syndromic craniosynostosis

Journal of Plastic, Reconstructive and Aesthetic Surgery — Thu, 11 Mar 2010 00:00:00 +0100

In conclusion, syndromic craniosynostosis has a large impact on the health-related quality of life of these children and their parents, both physical and psychosocial. (Source: Journal of Plastic, Reconstructive and Aesthetic Surgery)

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Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2+/P253R mice

BMC Developmental Biology - Latest articles — Mon, 22 Feb 2010 00:00:00 +0100

Conclusions: Our in vivo studies demonstrated that the Fgfr2 +/P253R mutation resulted in mice with cranial features that resemble those of the Fgfr2+/S252W mice and human Apert syndrome. Activated p38 in addition to the ERK1/2 signaling pathways may mediate the mutant neurocranial phenotype. Though Apert syndrome is traditionally thought to be a consistent phenotype, our results suggest localized and regional variations in the phenotypes that characterize Apert syndrome. (Source: BMC Developmental Biology - Latest articles)

Brain phenotypes in two FGFR2 mouse models for Apert syndrome

Developmental Dynamics — Thu, 14 Jan 2010 00:00:00 +0100

Apert syndrome (AS) is one of at least nine disorders considered members of the fibroblast growth factor receptor (FGFR) -1, -2, and -3-related craniosynostosis syndromes. Nearly 100% of individuals diagnosed with AS carry one of two neighboring mutations on Fgfr2. The cranial phenotype associated with these two mutations includes coronal suture synostosis, either unilateral (unicoronal synostosis) or bilateral (bicoronal synostosis). Brain dysmorphology associated with AS is thought to be secondary to cranial vault or base alterations, but the variation in brain phenotypes within Apert syndrome is unexplained. Here, we present novel three-dimensional data on brain phenotypes of inbred mice at postnatal day 0 each carrying one of the two Fgfr2 mutations associated with AS. Our data suggest...

Oral features in Apert syndrome: a histological investigation

Orthodontics and Craniofacial Research — Fri, 08 Jan 2010 00:00:00 +0100

Conclusion [ndash] This study identified histological anomalies of the DEJ of Apert syndrome teeth. An improved appreciation of the nature and extent of dental anomalies in Apert syndrome should assist clinicians when undertaking management of affected individuals. (Source: Orthodontics and Craniofacial Research)

Prenatal Diagnosis of Apert Syndrome with Cloverleaf Skull Deformity Using Ultrasound, Fetal Magnetic Resonance Imaging and Genetic Analysis

Karger Publishers — Wed, 25 Nov 2009 23:00:00 +0100

Fetal Diagn Ther (DOI:10.1159/000262447) (Source: Karger Publishers)

Evidence that Fgf10 contributes to the skeletal and visceral defects of an apert syndrome mouse model

Developmental Dynamics — Tue, 29 Sep 2009 23:00:00 +0100

No abstract. (Source: Developmental Dynamics)

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The Ups and Downs of Mutation Frequencies during Aging Can Account for the Apert Syndrome Paternal Age Effect

PLoS Genetics — Thu, 09 Jul 2009 23:00:00 +0100

Author Summary Epidemiological studies show that the incidence of some genetic diseases increases with the age of the father. This “paternal age effect” is traditionally explained by the fact that, as men age, the male germ-line cells continue to divide, and each division presents an additional chance for mutation. Apert syndrome is an example of such a disease; virtually all cases are caused by spontaneous base substitution mutations of paternal origin at either one of just two sites. In this paper, we measure the frequencies of these two mutations in the sperm of unaffected men of different ages and find a frequency increase with age similar to what has been found in the data on Apert syndrome births. We also find (1) the increase in mutation frequency is not strictly monotonic, fea...

FGF10 (Fibroblast Growth Factor 10) plays a causative role in the tracheal cartilage defects in a mouse model of Apert Syndrome.

Pediatric Research — Tue, 30 Jun 2009 23:00:00 +0100

Authors: Tiozzo C, De Langhe S, Carraro G, Al Alam D, Nagy A, Wigfall C, Hajihosseini MK, Warburton D, Minoo P, Bellusci S Patients with Apert Syndrome (AS) display a wide range of congenital malformations including tracheal stenosis, which is a disease characterized by a uniform cartilaginous sleeve in place of a normally ribbed cartilagenous trachea. We have studied the cellular and molecular basis of this phenotype in a mouse model of Apert syndrome (Fgfr2c mice), which shows ectopic expression of Fgfr2b in mesenchymal tissues. Here we report that tracheal stenosis is associated with increased proliferation of mesenchymal cells, where the expression of Fgf10 and its upstream regulators Tbx4 and Tbx5 are abnormally elevated. We show that Fgf10 has a critical inductive role in trachea...

Le Premier Siecle: One Hundred Years of Progress in the Treatment of Apert Syndrome.

Journal of Craniofacial Surgery — Mon, 08 Jun 2009 04:03:20 +0100

Page: 801DOI: 10.1097/SCS.0b013e3181843500Authors: Perlyn, Chad A. MD, PhD; Nichols, Chris MD; Woo, Albert MD; Becker, Devra MD; Kane, Alex A. MD (Source: Journal of Craniofacial Surgery)

Dysphagia and nutrition problems in infants with apert syndrome.

The Cleft Palate-Craniofacial Journal — Thu, 30 Apr 2009 23:00:00 +0100

Conclusions: In view of the small sample size and retrospective nature of the study, the results need to be interpreted with caution. However, the study adds to current limited knowledge on feeding and nutrition in Apert syndrome. Further prospective multidisciplinary and objective research is clearly warranted. PMID: 19642754 [PubMed - in process] (Source: The Cleft Palate-Craniofacial Journal)

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Inner Ear Anomalies and Conductive Hearing Loss in Children With Apert Syndrome: An Overlooked Otologic Aspect.

Otology & Neurotology — Sat, 24 Jan 2009 07:59:02 +0100

Page: 184DOI: 10.1097/MAO.Ob013e318191a352Authors: Zhou, Guangwei *; Schwartz, Lynn Thomas *; Gopen, Quinton *+ (Source: Otology & Neurotology)

Utilization of Postcranioplasty Skull Molding Caps in the Treatment of Apert Syndrome.

Journal of Craniofacial Surgery — Wed, 24 Dec 2008 10:11:06 +0100

Page: 1566DOI: 10.1097/SCS.0b013e31818c04e5Authors: McIntosh, Bryan C. MD *; Lee, Su-Shin MD +; Ball, Lynne L. MS, OTR/L ++; Persing, John A. MD, FACS [S] (Source: Journal of Craniofacial Surgery)

Apert Syndrome: The Current Role of Prenatal Ultrasound and Genetic Analysis in Diagnosis and Counselling

Fetal Diagnosis and Therapy — Thu, 11 Dec 2008 06:45:59 +0100

Fetal Diagn Ther 2008;24:495-498 (DOI:10.1159/000181186) (Source: Fetal Diagnosis and Therapy)

Pregnancy outcome following in utero exposure to bisphosphonates.

Bone — Fri, 14 Nov 2008 05:00:00 +0100

Conclusion: Coupled with existing data in the literature, our findings suggest that preconceptional and first-trimester use of bisphosphonates may not pose substantial fetal risks. PMID: 19059370 [PubMed - as supplied by publisher] (Source: Bone)

[Causes and clinical implications of sperm DNA damages.]

Gynecologie, Obstetrique & Fertilite — Mon, 27 Oct 2008 04:00:00 +0100

Authors: Hazout A, Menezo Y, Madelenat P, Yazbeck C, Selva J, Cohen-Bacrie P Numerous recent studies involve DNA damages associated with poor fertilization rates, early embryo development defect, and poor quality of conceptus following Assisted Reproductive Technologies (ART). The authors denounce a particularly high rate of miscarriages and childhood cancer or dominant genetic mutations such as achondroplasia, Apert syndrome or aberrant gene imprinting such as Angelman and Beckwith Wiedeman syndromes. Gametes DNA defects have numerous origins which are difficult to determine; they are known to involve hypomethylation, oxydative stress and environmental factors.(adducts formation). DNA defect is also linked to a more or less delayed apoptotic phenomenon. Exposure to radiations or radio...

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Apert syndrome with cerebellar changes

Pediatric Radiology RSS News, Cases, Teaching Files and Publications — Mon, 22 Sep 2008 20:14:52 +0100

Clinically, this patient presented to us with typical signs of the Apert syndrome. Previous patient history included cranial stenosis surgery.Presently, the patient was presented to us wi... (Source: Pediatric Radiology RSS News, Cases, Teaching Files and Publications)

Successful isotretinoin treatment of acne in a patient with apert syndrome.

Acta Derm Venereol A... — Thu, 11 Sep 2008 08:24:47 +0100

Authors: Dolenc-Voljc M, Finzgar-Perme M PMID: 18779907 [PubMed - in process] (Source: Acta Derm Venereol A...)

Evidence that Fgf10 contributes to the skeletal and visceral defects of an apert syndrome mouse model

Developmental Dynamics — Thu, 04 Sep 2008 04:00:00 +0100

Apert syndrome (AS) is a severe congenital disease caused by mutations in fibroblast growth factor receptor-2 (FGFR2), and characterised by craniofacial, limb, visceral, and neural abnormalities. AS-type FGFR2 molecules exert a gain-of-function effect in a ligand-dependent manner, but the causative FGFs and their relative contribution to each of the abnormalities observed in AS remains unknown. We have generated mice that harbour an AS mutation but are deficient in or heterozygous for Fgf10. The genetic knockdown of Fgf10 can rescue the skeletal as well as some of the visceral defects observed in this AS model, and restore a near normal level of FgfR2 signaling involving an apparent switch between ERK(p44/p42) and p38 phosphorylation. Surprisingly, it can also yield de novo cleft palate an...

Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (VII).

Taiwanese Journal of Obstetrics and Gynecology — Mon, 01 Sep 2008 04:00:00 +0100

This article provides a comprehensive review of the syndromes, disorders and maternal risk factors associated with NTDs, including DK phocomelia syndrome (von Voss-Cherstvoy syndrome), Siegel-Bartlet syndrome, fetal warfarin syndrome, craniotelencephalic dysplasia, Czeizel-Losonci syndrome, maternal cocaine abuse, Weissenbacher- Zweymller syndrome, parietal foramina (cranium bifidum), Apert syndrome, craniomicromelic syndrome, XXagonadism with multiple dysraphic lesions including omphalocele and NTDs, Fryns microphthalmia syndrome, Gershoni-Baruch syndrome, PHAVER syndrome, periconceptional vitamin B6 deficiency, and autosomal dominant Dandy-Walker malformation with occipital cephalocele. NTDs associated with these syndromes, disorders and maternal risk factors are a rare but important cau...

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily

Human Mutation — Fri, 22 Aug 2008 04:00:00 +0100

Apert syndrome (AS) is a severe disorder, characterized by craniosynostosis and complex syndactyly of the hands and feet. Two heterozygous gain-of-function substitutions (Ser252Trp and Pro253Arg) in exon IIIa of fibroblast growth factor receptor 2 (FGFR2) are responsible for >98% of cases. Here we describe two novel mutations in FGFR2 in the two patients in whom a mutation had not previously been found in our cohort of 227 AS cases. The first is a 1.93-kb deletion, removing exon IIIc and substantial portions of the flanking introns. This is the first large FGFR2 deletion described in any individual with craniosynostosis. The other mutation is a 5[prime] truncated Alu insertion into exon IIIc. This is the third Alu insertion identified in AS; all have occurred within an interval of only 104...

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Axillary Osmidrosis in Apert Syndrome: Management With an Arthroscopic Shaver Technique.

Journal of Craniofacial Surgery — Thu, 24 Jul 2008 09:15:55 +0100

Page: 1126DOI: 10.1097/SCS.0b013e31817636aeAuthors: Hess, Jason MD; Lonergan, Ian DO; Rozzelle, Arlene A. MD; Arneja, Jugpal S. MD, FAAP, FACS, FRCS(C) (Source: Journal of Craniofacial Surgery)

'My aim is to get a boyfriend'

BBC News | Health | UK Edition — Fri, 27 Jun 2008 23:06:49 +0100

Jess Lee is undergoing a series of operations to correct facial disfigurement caused by a rare condition called Apert Syndrome. (Source: BBC News | Health | UK Edition)

[Malformations of the lower extremities.]

Der Orthopade — Wed, 02 Apr 2008 04:00:00 +0100

Authors: Hefti F Malformations with deficiencies of the lower extremities are rare. They are usually caused by toxic influences during pregnancy between the 4th and the 12th week of gestation. Some malformations have a genetic origin. The total incidence of congenital deficiencies of the lower extremities is approximately 18 in 100,000 newborns. The most common deficiencies are fibular hemimelias, followed by congenital femoral deficiencies and tibial hemimelias. Hemimelias are often associated with deficient toes or ray defects. Congenital pseudarthrosis of the tibia is less common, but this diagnosis is underestimated in epidemiological studies in neonates, because the fracture usually only occurs at walking age. Other deficiencies such as bladder exstrophy with pelvic defects, split...

A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003

American Journal of Medical Genetics Part A — Sat, 15 Mar 2008 04:00:00 +0100

We describe the birth prevalence of craniosynostosis and related risk factors among infants born to residents of metropolitan Atlanta during 1989-2003. Data from the Metropolitan Atlanta Congenital Defects Program (MACDP) were used to identify infants with craniosynostosis. Case records with a code for craniosynostosis were reviewed to substantiate the diagnosis of craniosynostosis and to classify infants as having isolated craniosynostosis (no other unrelated major defects), multiple defects (one or more additional major, unrelated defects), or a syndrome (recognized or strongly suspected single-gene condition or chromosome abnormality). Vital records data on births of Georgia residents were used to analyze craniosynostosis prevalence by year of birth, maternal race and age, parity, plura...

A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis.

Bone — Wed, 30 Jan 2008 05:00:00 +0100

Authors: Yin L, Du X, Li C, Xu X, Chen Z, Su N, Zhao L, Qi H, Li F, Xue J, Yang J, Jin M, Deng C, Chen L Apert syndrome is one of the most severe craniosynostosis that is mainly caused by either a Ser252Trp(S252W) or Pro253Arg(P253R) mutation in fibroblast growth factor receptor 2 (FGFR2). As an autosomal dominant disorder, Apert syndrome is mainly characterized by skull malformation resulting from premature fusion of craniofacial sutures, as well as syndactyly, etc. A P253R mutation of FGFR2 results in nearly one-thirds of the cases of Apert syndrome. The pathogenesis of Apert syndrome resulting from P253R mutation of FGFR2 is still not fully understood. Here we reported a knock-in mouse model carrying P253R mutation in Fgfr2. The mutant mice exhibit smaller body size and brachycephal...

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Monozygotic twins with Apert syndrome.

The Cleft Palate-Craniofacial Journal — Tue, 01 Jan 2008 05:00:00 +0100

This report demonstrates monozygotic twins affected by Apert syndrome with both boys having the Ser252Trp mutation. Although the general constellation of clinical findings was characteristic for Apert syndrome, this case report is unique since the twins had different craniofacial and hand features. One of our twins had a metopic synostosis while Apert syndrome is often characterized by the large metopic suture that closes much later when compared to normal children. PMID: 18215098 [PubMed - indexed for MEDLINE] (Source: The Cleft Palate-Craniofacial Journal)

Why Are My Baby's Eyes Dancing?

PediatricEducation.org — Tue, 04 Dec 2007 01:46:57 +0100

Discussion Children should be screened for visual problems from birth onwards. Asking the parent whether they have any vision concerns may elicit the first clue to uncovering an abnormality. From birth until 2 years infants and toddler should have the following eye evaluation: Examination of the eyelids, conjunctiva, sclera, cornea and iris, pupils, and eyelids. Corneal light reflexes can evaluate muscle balance, ocular motility, and acuity. The symmetry of the corneal light reflexes on the pupil when the eye is fixed and when the eyes are in motion are noted. The light reflex should be symmetrical at all times; if it is not, then a referral to ophthalmology should be made. Unilateral cover test - must be performed with the eyes fixated on an object. The first eye is then covered while th...

Tracheal anomalies complicating ventilation of an infant with Apert syndrome.

Journal of Clinical Anesthesia — Thu, 01 Nov 2007 04:00:00 +0100

Authors: Hutson LR, Young E, Guarisco L Apert syndrome is a rare autosomal dominant disorder characterized by severe syndactyly of the feet and hands, craniofacial abnormalities, and craniosynostosis. A 7-month-old male infant with Apert syndrome who underwent direct bronchoscopy and tracheotomy during general anesthesia is presented. Early rigid bronchoscopy is important in these patients when there are problems with the airway, as they have a relatively high incidence of airway anomalies. PMID: 18063214 [PubMed - indexed for MEDLINE] (Source: Journal of Clinical Anesthesia)

[Molecular Diagnostics and Genetics] Integrated Strategy for Fast and Automated Molecular Characterization of Genes Involved in Craniosynostosis

Clinical Chemistry — Thu, 20 Sep 2007 04:00:00 +0100

Conclusions: The combined microchip-DHPLC strategy allows rapid and specific molecular diagnosis of craniosynostosis and is an effective tool for the medical and surgical management of these common congenital anomalies in a newborn or an infant with a developmental defect of the cranial vault. (Source: Clinical Chemistry)

Arthrolysis of the shoulder in Apert syndrome

European Journal of Orthopaedic Surgery & Traumatology — Wed, 19 Sep 2007 15:59:38 +0100

Conclusions Bilateral joint arthrolysis yielded good functional results over a 5-year follow-up. Content Type Journal ArticleCategory Case ReportDOI 10.1007/s00590-007-0263-8Authors Manuel Zafra, University Hospital “Reina Sofia” Orthopaedic Department Avenue Menendez Pidal S/N, 14.004, Mejorana 45 14012 Cordoba SpainPedro Carpintero, University Hospital “Reina Sofia” Orthopaedic Department Avenue Menendez Pidal S/N, 14.004, Mejorana 45 14012 Cordoba SpainMarcos Moreno-Saiz, University Hospital “Reina Sofia” Orthopaedic Department Avenue Menendez Pidal S/N, 14.004, Mejorana 45 14012 Cordoba Spain Journal European Journal of Orthopaedic Surgery & TraumatologyOnline ISSN 1432-1068Print ISSN 1633-8065 (Source: European Journal of Orthopaedic Surgery & Tr...

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A Clinicoradiologic Study of the Shoulder in Apert Syndrome.

Journal of Pediatric Orthopaedics — Wed, 19 Sep 2007 00:59:20 +0100

Page: 838DOI: 10.1097/BPO.0b013e3181455886aAuthors: Murnaghan, Lucas M. MD *; Thurgur, Claire H. MD, MSc +; Forster, Bruce B. MD, FRCPC +++; Sawatzky, Bonita J. PhD *[S]; Hawkins, Robert MD, FRCSC *[//]; Tredwell, Stephen J. MD, FRCSC *[S] (Source: Journal of Pediatric Orthopaedics)

The Molecular Anatomy of Spontaneous Germline Mutations in Human Testes

PLoS Biology: Archived Table of Contents — Tue, 11 Sep 2007 00:41:35 +0100

The frequency of Apert syndrome mutations is 100-1,000 times higher than expected from average mutation rates, and it is due to positive selection in the testis increasing the frequency of germ cells carrying the defect. (Source: PLoS Biology: Archived Table of Contents)

Cancer drugs to treat birth defects

Nature Genetics — Wed, 29 Aug 2007 23:39:21 +0100

Authors: Andrew O M Wilkie Identical mutations of the same genes can lead either to congenital malformations or to cancer, depending on their cellular and temporal context. The demonstration of activated RAS-ERK signaling in a mouse model of Apert syndrome suggests that drugs designed to inhibit this pathway in cancer may also delay the progression of several serious pediatric syndromes. (Source: Nature Genetics)

Human Testes May Multiply Mutations

ScienceDaily Headlines — Wed, 29 Aug 2007 00:00:00 +0100

The human testes may act as mutation multipliers, increasing the odds of passing good (and sometimes bad) mutations to offspring. The new theory tries to explain the puzzling high frequency of Apert syndrome, a genetic cranial deformity found in approximately one out of every 70,000 newborns. The study's authors suggest that natural selection may favor "germline" cells -- the precursors to sperm -- carrying a mutation that causes Apert syndrome.A competitive advantage for mutated sperm precursor cells could explain why Apert strikes 100 to 1,000 times more people than expected from a single mutation. (Source: ScienceDaily Headlines)

Selfish cells take over testes

news@nature.com — Tue, 28 Aug 2007 04:00:00 +0100

news@nature 13, (2007). doi:10.1038/news070827-1 Author: Mary Muers Clumps of mutant sperm-making cells help to explain Apert syndrome. (Source: news@nature.com)

RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis

Nature Genetics — Sun, 12 Aug 2007 04:00:00 +0100

Authors: Vivek Shukla, Xavier Coumoul, Rui-Hong Wang, Hyun-Seok Kim & Chu-Xia Deng Premature fusion of one or more of the cranial sutures (craniosynostosis) in humans causes over 100 skeletal diseases, which occur in 1 of ∼2,500 live births. Among them is Apert syndrome, one of the most severe forms of craniosynostosis, primarily caused by missense mutations leading to amino acid changes S252W or P253R in fibroblast growth factor receptor 2 (FGFR2). Here we show that a small hairpin RNA targeting the dominant mutant form of Fgfr2 (Fgfr2S252W) completely prevents Apert-like syndrome in mice. Restoration of normal FGFR2 signaling is manifested by an alteration of the activity of extracellular signal-regulated kinases 1 and 2 (ERK1/2), implicating the gene encoding ERK and the genes...

Unilateral Vision Impairment From a Carotid-Cavernous Fistula After a Monobloc Osteotomy in a Patient With Apert Syndrome.

Journal of Craniofacial Surgery — Fri, 27 Jul 2007 00:50:26 +0100

Page: 960DOI: 10.1097/scs.0b013e3180a77222Authors: Vyas, Raj M. BS *; Keagle, Jennifer N. MD *; Wexler, Andrew MD +; Cahan, Les MD +; Kawamoto, Henry K. DDS, MD *; Lazareff, Jorge MD *; Wasson, Kristy L. BA *; Bradley, James P. MD * (Source: Journal of Craniofacial Surgery)

Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells.

Molecular Medicine — Mon, 11 Jun 2007 04:00:00 +0100

Authors: Fanganiello RD, Sertié AL, Reis EM, Yeh E, Oliveira NA, Bueno DF, Kerkis I, Alonso N, Cavalheiro S, Matsushita H, Freitas R, Verjovski-Almeida S, Passos-Bueno MR Apert syndrome (AS), a severe form of craniosynostosis, is caused by dominant gain-of-function mutations in FGFR2. Since the periosteum contribution to AS cranial pathophysiology is unknown we tested the osteogenic potential of AS periosteal cells (p.Ser252Trp mutation) and observed that these cells are more committed towards the osteoblast lineage. To delineate the gene expression profile involved in this abnormal behaviour we performed a global gene expression analysis of coronal suture periosteal cells from seven AS patients (p.Ser252Trp), and matched controls. We identified 263 genes with significantly altered ex...

Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound

Prenatal Diagnosis — Mon, 14 May 2007 04:00:00 +0100

To illustrate how Apert syndrome, a rare autosomal dominant genetic syndrome, can be detected in the second-trimester of pregnancy using 2D ultrasound, and how 3D ultrasound examination may provide parents with a better understanding of the structural defects affecting their baby.Fetal Medicine Unit database searches to identify Apert syndrome cases.Five cases of Apert syndrome were suspected in the second-trimester when sonography showed abnormal extremities including syndactyly, and an abnormal skull shape. In 1 case there was increased nuchal translucency with a normal fetal karyotype in the first-trimester. In all cases, a mutation of the FGFR2 gene confirmed the diagnosis of Apert syndrome. 3D ultrasound was used to show parents the extent of the abnormalities of the skull, face and e...

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MRI characterization of the glenohumeral joint in Apert syndrome

Pediatric Radiology — Tue, 24 Apr 2007 07:08:54 +0100

We report the radiographic and MRI abnormalities of the glenohumeral joints in a 10-month-old girl with Apert syndrome. The MRI findings in the girl support the hypothesis that the pathogenesis of Apert syndrome is caused by defective cartilage segmentation with premature and abnormal ossification of a cartilage bar within a joint space. The resultant shoulder joint deformity is related to glenoid hypoplasia and growth arrest of the medial aspect of the humeral head. Content TypeJournal Article JournalPediatric RadiologyOnline ISSN 1432-1998Print ISSN 0301-0449 (Source: Pediatric Radiology)

Re: Differential Effects of FGFR2 Mutation in Ophthalmologic Findings in Apert Syndrome.

Journal of Craniofacial Surgery — Wed, 28 Mar 2007 07:31:01 +0100

(Source: Journal of Craniofacial Surgery)

The spectrum of Apert syndrome: phenotype, particularities in orthodontic treatment, and characteristics of orthognathic surgery

Head & Face Medicine — Thu, 08 Feb 2007 07:00:00 +0100

In the PubMed accessible literature, information on the characteristics of interdisciplinary orthodontic and surgical treatment of patients with Apert syndrome is rare. The aim of the present article is threefold: (1) to show the spectrum of the phenotype, in order (2) to elucidate the scope of hindrances to orthodontic treatment, and (3) to demonstrate the problems of surgery and interdisciplinary approach. Children and adolescents who were born in 1985 or later, who were diagnosed with Apert syndrome, and who sought consultation or treatment at the Departments of Orthodontics or Craniomaxillofacial Surgery at the Dental School of the University Hospital of Munster (n = 22; 9 male, 13 female) were screened. Exemplarily, three of these patients (2 male, 1 female), seeking interdisciplinary...

Differential Effects of FGFR2 Mutation in Ophthalmic Findings in Apert Syndrome.

Journal of Craniofacial Surgery — Mon, 05 Feb 2007 18:16:01 +0100

(Source: Journal of Craniofacial Surgery)

Apert syndrome with septum pellucidum agenesis.

Singapore Medical Journal — Thu, 01 Feb 2007 07:00:00 +0100

We describe the classical clinical and radiological findings of this syndrome in a 20-year-old woman. Though early surgical intervention is imperative for optimal outcome, in developing countries, it may not be possible to intervene at the right time due to financial constraints. PMID: 17304383 [PubMed - in process] (Source: Singapore Medical Journal)

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Ovarian dysgerminoma and Apert syndrome

Pediatric Blood and Cancer — Mon, 22 Jan 2007 07:00:00 +0100

We report the case of a 13-year-old female with Apert syndrome who developed an ovarian dysgerminoma. The FGFR2 exon 7 sequencing showed the classical Apert syndrome c.758C > G transversion (p.Pro253Arg). The genomic analyses of the tumor cells showed low level gains and losses of several chromosomes. This is the second report of the association of Apert syndrome with cancer. Our observation raises the hypothesis of a role for FGFR2 mutations in tumorigenesis. Pediatr Blood Cancer © 2007 Wiley-Liss, Inc. (Source: Pediatric Blood and Cancer)

Apert syndrome: what prenatal radiographic findings should prompt its consideration?

Prenatal Diagnosis — Tue, 26 Sep 2006 22:56:01 +0100

Apert syndrome was diagnosed in a newborn with typical facial and digital features whose only detected prenatal abnormality had been agenesis of the corpus callosum. This prompted a review of the central nervous system findings in all cases of Apert syndrome treated at the Craniofacial Center Boston Children's Hospital between 1978 and 2004. Two of 30 patients with Apert syndrome had prenatal identification of mild dilatation of the lateral cerebral ventricles and complete agenesis of the corpus callosum (ACC) documented with both ultrasound and MRI. Both had the common S252W mutation of FGFR2. Though cranial and orbital malformations typical of Apert were eventually seen in these fetuses in the third-trimester, even in retrospect, these were not detectable at mid second-trimester, ultraso...

S252W Mutation in Indian Patients of Apert Syndrome.

Indian Pediatrics — Mon, 07 Aug 2006 06:00:00 +0100

Authors: Girisha KM, Phadke SR, Khan F, Agrawal S Two common mutations in the exon IIIa of fibroblast growth factor receptor 2 account for majority of the cases of Apert syndrome. They can be analyzed by amplifying the segment followed by testing for the abolition of restriction sites. We evaluated two children with typical features of Apert syndrome. A segment of FGFR2 exon IIIa was amplified by polymerase chain reaction. Restriction fragment length polymorphism was analyzed using enzymes MboI and BglI respectively for S252W and P253R mutations. The DNA segment was sequenced using ABI 310 automated DNA fragment analyzer. Both the patients showed S252W mutations. DNA sequencing confirmed the results of the restriction fragment length polymorphism. Our study is the first report from Ind...

A case of Pfeiffer syndrome.

J Korean Med Sci — Fri, 14 Apr 2006 06:00:00 +0100

Authors: Park MS, Yoo JE, Chung J, Yoon SH Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers and toes, mild proptosis, choanal hypoplasia and maxillary hypoplasia. PMID: 16614535 [PubMed - indexed for MEDLINE] (Source: J Korean Med Sci)

Apert syndrome with glucose-6-phosphate dehydrogenase deficiency: a case report

International Journal of Paediatric Dentistry — Mon, 03 Apr 2006 11:18:04 +0100

International Journal of Paediatric Dentistry Volume 16, Issue 3, Page 218-221, May 2006 (Source: International Journal of Paediatric Dentistry)

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Apert syndrome

International Journal of Dermatology — Tue, 17 Jan 2006 17:02:37 +0100

International Journal of Dermatology Volume 0, Issue 0 (Source: International Journal of Dermatology)