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Evidence that Fgf10 contributes to the skeletal and visceral defects of an apert syndrome mouse modelEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
No abstract. (Source: Developmental Dynamics)
Source: Developmental Dynamics - September 29, 2009 Category: Molecular Biology Authors: Mohammad K. Hajihosseini, Raquel Duarte, Jean Pegrum, Anne Donjacour, Eva Lana-Elola, David P. Rice, James Sharpe, Clive Dickson Source Type: journals

The Ups and Downs of Mutation Frequencies during Aging Can Account for the Apert Syndrome Paternal Age EffectEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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...
Source: PLoS Genetics - July 9, 2009 Category: Genetics & Stem Cells Authors: Song-Ro Yoon et al. Source Type: journals

FGF10 (Fibroblast Growth Factor 10) plays a causative role in the tracheal cartilage defects in a mouse model of Apert Syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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...
Source: Pediatric Research - June 30, 2009 Category: Pediatrics Authors: Tiozzo C, De Langhe S, Carraro G, Al Alam D, Nagy A, Wigfall C, Hajihosseini MK, Warburton D, Minoo P, Bellusci S Tags: Pediatr Res Source Type: journals

Le Premier Siecle: One Hundred Years of Progress in the Treatment of Apert Syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Journal of Craniofacial Surgery - June 8, 2009 Category: Surgery Tags: Abstract HTML PDF (984 K) Source Type: journals

Dysphagia and nutrition problems in infants with apert syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: The Cleft Palate-Craniofacial Journal - April 30, 2009 Category: ENT & OMF Authors: Pereira V, Sacher P, Ryan M, Hayward R Tags: Cleft Palate Craniofac J Source Type: journals

Inner Ear Anomalies and Conductive Hearing Loss in Children With Apert Syndrome: An Overlooked Otologic Aspect.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Page: 184DOI: 10.1097/MAO.Ob013e318191a352Authors: Zhou, Guangwei *; Schwartz, Lynn Thomas *; Gopen, Quinton *+ (Source: Otology & Neurotology)
Source: Otology & Neurotology - January 24, 2009 Category: ENT & OMF Tags: Abstract HTML PDF (541 K) Source Type: journals

Utilization of Postcranioplasty Skull Molding Caps in the Treatment of Apert Syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Journal of Craniofacial Surgery - December 24, 2008 Category: Surgery Tags: Abstract HTML PDF (930 K) Source Type: journals

Apert Syndrome: The Current Role of Prenatal Ultrasound and Genetic Analysis in Diagnosis and CounsellingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Fetal Diagn Ther 2008;24:495-498 (DOI:10.1159/000181186) (Source: Fetal Diagnosis and Therapy)
Source: Fetal Diagnosis and Therapy - December 11, 2008 Category: Perinatology & Neonatology Source Type: journals

Pregnancy outcome following in utero exposure to bisphosphonates.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Bone - November 14, 2008 Category: Orthopaedics Authors: Levy S, Fayez I, Taguchi N, Han JY, Aiello J, Matsui D, Moretti M, Koren G, Ito S Tags: Bone Source Type: journals

[Causes and clinical implications of sperm DNA damages.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 i...
Source: Gynecologie, Obstetrique & Fertilite - October 27, 2008 Category: OBGYN Authors: Hazout A, Menezo Y, Madelenat P, Yazbeck C, Selva J, Cohen-Bacrie P Tags: Gynecol Obstet Fertil Source Type: journals

Apert syndrome with cerebellar changesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Pediatric Radiology RSS News, Cases, Teaching Files and Publications - September 22, 2008 Category: Radiology Tags: Pediatric Radiology and Pediatrics Source Type: info

Successful isotretinoin treatment of acne in a patient with apert syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 18779907 [PubMed - in process] (Source: Acta Derm Venereol A...)
Source: Acta Derm Venereol A... - September 11, 2008 Category: Dermatology Authors: Dolenc-Voljc M, Finzgar-Perme M Tags: Acta Derm Venereol Source Type: journals

Evidence that Fgf10 contributes to the skeletal and visceral defects of an apert syndrome mouse modelEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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...
Source: Developmental Dynamics - September 4, 2008 Category: Molecular Biology Authors: Mohammad K. Hajihosseini, Raquel Duarte, Jean Pegrum, Anne Donjacour, Eva Lana-Elola, David P. Rice, James Sharpe, Clive Dickson Source Type: journals

Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (VII).Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 autos...
Source: Taiwanese Journal of Obstetrics and Gynecology - September 1, 2008 Category: OBGYN Authors: Chen CP Tags: Taiwan J Obstet Gynecol Source Type: journals

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamilyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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. T...
Source: Human Mutation - August 22, 2008 Category: Stem Cells Authors: Elena G. Bochukova, Tony Roscioli, Dale J. Hedges, Indira B. Taylor, David Johnson, David J. David, Prescott L. Deininger, Andrew O.M. Wilkie Source Type: journals

Axillary Osmidrosis in Apert Syndrome: Management With an Arthroscopic Shaver Technique.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Journal of Craniofacial Surgery - July 24, 2008 Category: Surgery Tags: Abstract HTML PDF (1.133 M) Source Type: journals

'My aim is to get a boyfriend'Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: BBC News | Health | UK Edition - June 27, 2008 Category: Consumer Health News Tags: Health Source Type: news

[Malformations of the lower extremities.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 epidemiologi...
Source: Der Orthopade - April 2, 2008 Category: Orthopaedics Authors: Hefti F Tags: Orthopade Source Type: journals

A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 chromoso...
Source: American Journal of Medical Genetics Part A - March 15, 2008 Category: Stem Cells Authors: Sheree L. Boulet, Sonja A. Rasmussen, Margaret A. Honein Source Type: journals

A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 ...
Source: Bone - January 30, 2008 Category: Orthopaedics 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 Tags: Bone Source Type: journals

Monozygotic twins with Apert syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: The Cleft Palate-Craniofacial Journal - January 1, 2008 Category: ENT & OMF Authors: Breugem CC, Fitzpatrick DF, Verchere C Tags: Cleft Palate Craniofac J Source Type: journals

Why Are My Baby's Eyes Dancing?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 ...
Source: PediatricEducation.org - December 4, 2007 Category: Pediatrics Authors: Donna D'Alessandro, M.D. Source Type: info

Tracheal anomalies complicating ventilation of an infant with Apert syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Journal of Clinical Anesthesia - November 1, 2007 Category: Anesthesiology Authors: Hutson LR, Young E, Guarisco L Tags: J Clin Anesth Source Type: journals

[Molecular Diagnostics and Genetics] Integrated Strategy for Fast and Automated Molecular Characterization of Genes Involved in CraniosynostosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Clinical Chemistry - September 20, 2007 Category: Chemistry Authors: Stenirri, S., Restagno, G., Ferrero, G. B., Alaimo, G., Sbaiz, L., Mari, C., Genitori, L., Maurizio, F., Cremonesi, L. Tags: Molecular Diagnostics and Genetics Source Type: journals

Arthrolysis of the shoulder in Apert syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 ...
Source: European Journal of Orthopaedic Surgery & Traumatology - September 19, 2007 Category: Orthopaedics Tags: European Journal of Orthopaedic Surgery & Traumatology Source Type: journals

A Clinicoradiologic Study of the Shoulder in Apert Syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Journal of Pediatric Orthopaedics - September 19, 2007 Category: Orthopaedics Tags: Abstract HTML PDF (0.999 M) Source Type: journals

The Molecular Anatomy of Spontaneous Germline Mutations in Human TestesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: PLoS Biology: Archived Table of Contents - September 11, 2007 Category: Biology Source Type: journals

Cancer drugs to treat birth defectsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Nature Genetics - August 29, 2007 Category: Stem Cells Authors: Andrew O M Wilkie Tags: News and Views Source Type: journals

Human Testes May Multiply MutationsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: ScienceDaily Headlines - August 29, 2007 Category: Science Source Type: news

Human Testes May Multiply MutationsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Genetics News From Medical News Today - August 28, 2007 Category: Stem Cells Source Type: news

Selfish cells take over testesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: news@nature.com - August 28, 2007 Category: Consumer Health News Authors: Mary Muers Tags: News Source Type: journals

RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 extracel...
Source: Nature Genetics - August 12, 2007 Category: Stem Cells Authors: Vivek ShuklaXavier CoumoulRui-Hong WangHyun-Seok KimChu-Xia Deng Tags: Letter Source Type: journals

Unilateral Vision Impairment From a Carotid-Cavernous Fistula After a Monobloc Osteotomy in a Patient With Apert Syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Journal of Craniofacial Surgery - July 27, 2007 Category: Surgery Tags: Abstract HTML PDF (2.948 M) Source Type: journals

Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 expr...
Source: Molecular Medicine - June 11, 2007 Category: Molecular Biology 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 Tags: Mol Med Source Type: journals

Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasoundEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 case...
Source: Prenatal Diagnosis - May 14, 2007 Category: Perinatology & Neonatology Authors: A. L. David, C. Turnbull, R. Scott, J. Freeman, C. M. Bilardo, M. van Maarle, L. S. Chitty Source Type: journals

MRI characterization of the glenohumeral joint in Apert syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Pediatric Radiology - April 24, 2007 Category: Radiology Tags: Pediatric Radiology Source Type: journals

Re: Differential Effects of FGFR2 Mutation in Ophthalmologic Findings in Apert Syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Journal of Craniofacial Surgery)
Source: Journal of Craniofacial Surgery - March 28, 2007 Category: Surgery Tags: HTML PDF (40 K) Source Type: journals

The spectrum of Apert syndrome: phenotype, particularities in orthodontic treatment, and characteristics of orthognathic surgeryEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 ...
Source: Head & Face Medicine - February 8, 2007 Category: ENT & OMF Authors: Ariane Hohoff, Ulrich Joos, Ulrich Meyer, Ulrike Ehmer and Thomas Stamm Source Type: journals

Differential Effects of FGFR2 Mutation in Ophthalmic Findings in Apert Syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Journal of Craniofacial Surgery)
Source: Journal of Craniofacial Surgery - February 5, 2007 Category: Surgery Tags: Abstract HTML PDF (60 K) Source Type: journals

Apert syndrome with septum pellucidum agenesis.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Singapore Medical Journal - February 1, 2007 Category: Journals (General) Authors: Tiwari A, Agrawal A, Pratap A, Lakshmi R, Narad R Tags: Singapore Med J Source Type: journals

Ovarian dysgerminoma and Apert syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Pediatric Blood and Cancer - January 22, 2007 Category: Cancer & Oncology Authors: Cécile Rouzier, Christine Soler, Paul Hofman, Caroline Brennetot, Eric Bieth, Florence Pedeutour Source Type: journals

Apert syndrome: what prenatal radiographic findings should prompt its consideration?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 m...
Source: Prenatal Diagnosis - September 26, 2006 Category: Perinatology & Neonatology Authors: Fabiola Quintero-Rivera, Caroline D. Robson, Rosemary E. Reiss, Deborah Levine, Carol Benson, John B. Mulliken, Virginia E. Kimonis Source Type: journals

S252W Mutation in Indian Patients of Apert Syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 ...
Source: Indian Pediatrics - August 7, 2006 Category: Pediatrics Authors: Girisha KM, Phadke SR, Khan F, Agrawal S Source Type: journals

A case of Pfeiffer syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: J Korean Med Sci - April 14, 2006 Category: Journals (General) Authors: Park MS, Yoo JE, Chung J, Yoon SH Source Type: journals

Apert syndrome with glucose-6-phosphate dehydrogenase deficiency: a case reportEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
International Journal of Paediatric Dentistry Volume 16, Issue 3, Page 218-221, May 2006 (Source: International Journal of Paediatric Dentistry)
Source: International Journal of Paediatric Dentistry - April 3, 2006 Category: Dentistry Source Type: journals

Apert syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
International Journal of Dermatology Volume 0, Issue 0 (Source: International Journal of Dermatology)
Source: International Journal of Dermatology - January 17, 2006 Category: Dermatology News Source Type: journals