Document Detail

Additional phenotypic features of Muenke syndrome in 2 Dutch families.
MedLine Citation:
PMID:  21403557     Owner:  NLM     Status:  MEDLINE    
In about 30% of the patients with syndromal craniosynostosis, a genetic mutation can be traced. For the purpose of adequate genetic counseling and treatment of these patients, the full spectrum of clinical findings for each specific mutation needs to be appreciated. The Pro250Arg mutation in the FGFR3 gene is found in patients with Muenke syndrome and is one of the most frequently encountered mutations in craniosynostosis syndromes. A number of studies on the relationship between genotype and phenotype concerning this specific mutation have been published. Two Dutch families with Muenke syndrome were screened for the reported characteristics of this syndrome and for additional features. New phenotypical findings were hypoplasia of the frontal sinus, ptosis of the upper eyelids, dysplastic elbow joints with restricted elbow motion, and mild cutaneous syndactyly. Incidentally, polydactyly, severe ankylosis of the elbow, fusion of cervical vertebrae, and epilepsy were found. Upper eyelid ptosis is thought to be pathognomonic for Saethre-Chotzen syndrome but was also observed in our series of patients with Muenke syndrome. Because Muenke and Saethre-Chotzen syndrome can have similar phenotypes, DNA analysis is needed to distinguish between these syndromes, even when a syndrome diagnosis is already made in a family member.
Tim de Jong; Irene M J Mathijssen; A Jeannette M Hoogeboom
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Journal of craniofacial surgery     Volume:  22     ISSN:  1536-3732     ISO Abbreviation:  J Craniofac Surg     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-03-22     Completed Date:  2011-09-23     Revised Date:  2012-06-05    
Medline Journal Info:
Nlm Unique ID:  9010410     Medline TA:  J Craniofac Surg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  571-5     Citation Subset:  D    
Department of Plastic, Reconstructive and Hand Surgery, Erasmus MC, Sophia Children's Hospital, Rotterdam, the Netherlands.
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MeSH Terms
Acrocephalosyndactylia / genetics
Arginine / genetics
Craniosynostoses / genetics*
Proline / genetics
Receptor, Fibroblast Growth Factor, Type 3 / genetics*
Reg. No./Substance:
147-85-3/Proline; 74-79-3/Arginine; EC protein, human; EC, Fibroblast Growth Factor, Type 3

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