Article

Significant Phenotypic Variability of Muenke Syndrome in Identical Twins

Medical Genetics and Neurodevelopmental Center, St. Vincent Children's Hospital, Indianapolis, Indiana, USA.
American Journal of Medical Genetics Part A (Impact Factor: 2.05). 06/2009; 149A(6):1273-6. DOI: 10.1002/ajmg.a.32841
Source: PubMed

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.

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