| Additional Phenotypic Features of Muenke Syndrome in 2 Dutch Families. | |
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MedLine Citation:
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PMID: 21403557 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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Tim de Jong; Irene M J Mathijssen; A Jeannette M Hoogeboom |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-3-9 |
Journal Detail:
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Title: The Journal of craniofacial surgery Volume: - ISSN: 1536-3732 ISO Abbreviation: - Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-3-15 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9010410 Medline TA: J Craniofac Surg Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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From the *Department of Plastic, Reconstructive and Hand Surgery, Erasmus MC, Sophia Children's Hospital; and †Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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