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Significant phenotypic variability of Muenke syndrome in identical twins

✍ Scribed by Luis F. Escobar; Adam K. Hiett; Anne Marnocha

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 116 KB
Volume: 149A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32841

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✦ Synopsis

Abstract

Muenke syndrome (MS), also known as Muenke nonsyndromic coronal craniosynostosis, is an autosomal dominant condition which can be distinguished from the more common forms of acrocephalosyndactyly but presents a significant variable phenotype. We report on a set of identical twins with a de novo C749G mutation in the FGFR3 gene codon 250 after a pregnancy complicated by prenatal exposure to Nortriptyline. These patients illustrate the variable expressivity of MS in association with an identical gene mutation. © 2009 Wiley‐Liss, Inc.

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