Document Detail


Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
MedLine Citation:
PMID:  18000976     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Emily S Doherty; Felicitas Lacbawan; Donald W Hadley; Carmen Brewer; Christopher Zalewski; H Jeff Kim; Beth Solomon; Kenneth Rosenbaum; Demetrio L Domingo; Thomas C Hart; Brian P Brooks; Ladonna Immken; R Brian Lowry; Virginia Kimonis; Alan L Shanske; Fernanda Sarquis Jehee; Maria Rita Passos Bueno; Carol Knightly; Donna McDonald-McGinn; Elaine H Zackai; Maximilian Muenke
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Intramural    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  143A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2007-12-06     Completed Date:  2008-01-02     Revised Date:  2012-06-05    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  3204-15     Citation Subset:  IM    
Copyright Information:
(c) 2007 Wiley-Liss, Inc.
Affiliation:
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Audiometry / methods
Child, Preschool
Craniosynostoses / diagnosis*,  genetics*
Developmental Disabilities / diagnosis,  genetics
Female
Hearing Loss, Sensorineural / diagnosis,  genetics*
Humans
Infant
Male
Mutation
Pedigree
Phenotype
Receptor, Fibroblast Growth Factor, Type 3 / genetics*
Sex Factors
Speech Disorders / diagnosis,  genetics
Syndrome
Tomography, X-Ray Computed / methods
Chemical
Reg. No./Substance:
EC 2.7.10.1/FGFR3 protein, human; EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 3

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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