title: Severe congenital myopathy with Möbius, Robin, and Poland sequences: new aspects of the Carey-Fineman-Ziter syndrome.
abstract: We report a boy with severe congenital myopathy, Möbius-Poland sequence, Robin sequence, and severe developmental delay. We consider this patient to have Carey-Fineman-Ziter syndrome. Since this is only the seventh case reported, this case helps to define further the consistent manifestations of this recognizable phenotype. Additionally our patient shows laryngostenosis, intermittent episodes of high blood pressure and Poland sequence as important clinical symptoms.
authors.affiliation: Department of Medical Genetics, University of Tübingen, Germany. andreas.dufke@med.uni-tuebingen.de
authors.forename: Andreas
authors.initials: A
authors.lastname: Dufke
authors.forename: Joachim
authors.initials: J
authors.lastname: Riethmüller
authors.forename: Herbert
authors.initials: H
authors.lastname: Enders
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002675:Child, Preschool; D006801:Humans; D007621:Karyotyping; D008297:Male; D020331:Mobius Syndrome / Q000473:pathology*; D009135:Muscular Diseases / Q000151:congenital*; D010641:Phenotype; D010855:Pierre Robin Syndrome / Q000473:pathology*; D011045:Poland Syndrome / Q000473:pathology*; D013577:Syndrome