title: Significant phenotypic variability of Muenke syndrome in identical twins.
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.
authors.affiliation: Medical Genetics and Neurodevelopmental Center, St. Vincent Children's Hospital, Indianapolis, Indiana, USA. lfescoba@stvincent.org
authors.forename: Luis F
authors.initials: LF
authors.lastname: Escobar
authors.forename: Adam K
authors.initials: AK
authors.lastname: Hiett
authors.forename: Anne
authors.initials: A
authors.lastname: Marnocha
mesh_terms: D000014:Abnormalities, Drug-Induced / Q000209:etiology*; D000015:Abnormalities, Multiple / Q000139:chemically induced* / Q000235:genetics; D000328:Adult; D000595:Amino Acid Sequence; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics; D002648:Child; D003398:Craniosynostoses / Q000235:genetics*; D004200:Diseases in Twins / Q000235:genetics; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009661:Nortriptyline / Q000009:adverse effects; D010641:Phenotype; D011247:Pregnancy; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D013577:Syndrome; D014430:Twins, Monozygotic / Q000235:genetics*
chemical_list: D009661:Nortriptyline; D051498:Receptor, Fibroblast Growth Factor, Type 3