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.
(c) 2009 Wiley-Liss, Inc.
MeSH terms
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Abnormalities, Drug-Induced / etiology*
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Abnormalities, Multiple / chemically induced*
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Abnormalities, Multiple / genetics
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Adult
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Amino Acid Sequence
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Attention Deficit Disorder with Hyperactivity / genetics
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Child
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Craniosynostoses / genetics*
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Diseases in Twins / genetics
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Female
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Humans
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Molecular Sequence Data
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Mutation*
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Nortriptyline / adverse effects
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Phenotype
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Pregnancy
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Receptor, Fibroblast Growth Factor, Type 3 / genetics*
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Syndrome
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Twins, Monozygotic / genetics*
Substances
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Nortriptyline
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Receptor, Fibroblast Growth Factor, Type 3