MedWorm: Apert Syndrome

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)

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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)

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...

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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)

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

Journal of Craniofacial Surgery — Sun, 24 May 2009 08:40:39 +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)

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)

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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...

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)

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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...

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)

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'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...

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)

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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...

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)

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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)

Human Testes May Multiply Mutations

Genetics News From Medical News Today — Tue, 28 Aug 2007 07:00:00 +0100

The testes in humans may act as mutation multipliers that raise the odds of passing improved DNA to offspring but that can also backfire by increasing the frequency of certain diseases. The new theory is part of a study, appearing in PLOS Biology, that tries to explain the puzzlingly high frequency of Apert syndrome, a genetic cranial deformity found in approximately one out of every 70,000 newborns. [click link for full article] (Source: Genetics News From Medical News Today)

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)

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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...

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)

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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)

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)

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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)

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)

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