title: Panhypopituitary insufficiency in a patient with clinical diagnosis of Chitayat-Hall syndrome.
abstract: We report an 8-year-old proband with severe motor and intellectual disability presenting a variety of dysmorphic features such as microcephaly, prominent glabella (ridged metopic suture) and congenital distal limb contractures. As well as panhypopituitary insufficiency, brain defects, e.g. agenesis of corpus callosum, colpocephaly, and pachygyria as well as strabismus and tracheo-laryngeal hypoplasia, were diagnosed. Genetic examination revealed a normal karyotype and excluded Wolf-Hirschhorn syndrome and subtelomeric deletions. Chitayat-Hall syndrome was diagnosed based on clinical traits.
authors.affiliation: Genetics Department, Medical University, Wroclaw. smigiel@gen.am.wroc.pl
authors.forename: Robert
authors.initials: R
authors.lastname: Smigiel
authors.forename: Aleksander
authors.initials: A
authors.lastname: Basiak
authors.forename: Blazej
authors.initials: B
authors.lastname: Misiak
authors.forename: Karolina
authors.initials: K
authors.lastname: Pesz
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D002648:Child; D003286:Contracture / Q000151:congenital; D005260:Female; D006801:Humans; D007018:Hypopituitarism / Q000175:diagnosis*; D008607:Intellectual Disability / Q000175:diagnosis; D008831:Microcephaly / Q000175:diagnosis; D013285:Strabismus / Q000175:diagnosis; D013577:Syndrome