Information de reference pour ce titreAccession Number: | 01445366-200712150-00043.
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Author: | Doherty, Emily S. 1,13,+; Lacbawan, Felicitas 1; Hadley, Donald W. 1; Brewer, Carmen 2; Zalewski, Christopher 2; Kim, Jeff H. 2; Solomon, Beth 3; Rosenbaum, Kenneth 4; Domingo, Demetrio L. 5; Hart, Thomas C. 5; Brooks, Brian P. 4,6; Immken, LaDonna 7; Lowry, Brian R. 8; Kimonis, Virginia 9; Shanske, Alan L. 10; Jehee, Fernanda Sarquis 11; Bueno, Maria Rita Passos 11; Knightly, Carol 12; McDonald-McGinn, Donna 12; Zackai, Elaine H. 12; Muenke, Maximilian 1,*
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Institution: | (1) National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland (2) National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland (3) Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, Maryland (4) Children's National Medical Center, Washington, District of Columbia (5) National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland (6) National Eye Institute, National Institutes of Health, Bethesda, Maryland (7) Specially for Children, Austin, Texas (8) Department of Medical Genetics, Alberta Children's Hospital and University of Calgary, Calgary, Alberta, Canada (9) Children's Hospital Boston, Boston, Massachusetts (10) Children's Hospital Montefiore, Bronx, New York (11) University of Sao Paulo, Sao Paulo, Brazil (12) The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (13) Carilion Clinic, Roanoke, Virginia (+)present address is Carilion Clinic, Roanoke, Virginia. (*)Correspondence to: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, Rm 1B203, MSC 3717, Bethesda, MD 20892-3717.
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Title: | |
Source: | American Journal Of Medical Genetics -A. 143A(24):3204-3215, December 15, 2007.
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Abstract: | : Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the Pro250Arg mutation in the FGFR3 gene. Reduced penetrance and variable expressivity contribute to the wide spectrum of clinical findings in Muenke syndrome. To better define the clinical features of this syndrome, we initiated a study of the natural history of Muenke syndrome. To date, we have conducted a standardized evaluation of nine patients with a confirmed Pro250Arg mutation in FGFR3. We reviewed audiograms from an additional 13 patients with Muenke syndrome. A majority of the patients (95%) demonstrated a mild-to-moderate, low frequency sensorineural hearing loss. This pattern of hearing loss was not previously recognized as characteristic of Muenke syndrome. We also report on feeding and swallowing difficulties in children with Muenke syndrome. Combining 312 reported cases of Muenke syndrome with data from the nine NIH patients, we found that females with the Pro250Arg mutation were significantly more likely to be reported with craniosynostosis than males (P < 0.01). Based on our findings, we propose that the clinical management should include audiometric and developmental assessment in addition to standard clinical care and appropriate genetic counseling. Published 2007 Wiley-Liss, Inc.
Copyright (C) 2007 John Wiley & Sons, Inc.
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Author Keywords: | craniosynostosis; Muenke syndrome; fibroblast growth factor receptor 3; coronal suture synostosis; hearing loss; developmental delay; speech delay.
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Language: | English.
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Document Type: | Research Articles: MUENKE SYNDROME: EXPANSION OF THE PHENOTYPE: Research Article.
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Journal Subset: | Life & Biomedical Sciences. Science.
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ISSN: | 1552-4825
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DOI Number: | https://dx.doi.org/10.1002/ajmg....- ouverture dans une nouvelle fenêtre
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