Panhypopituitary insufficiency in a patient with clinical diagnosis of Chitayat-Hall syndrome.
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.
Smigiel
Robert
R
Genetics Department, Medical University, Wroclaw. smigiel@gen.am.wroc.pl
Basiak
Aleksander
A
Misiak
Blazej
B
Pesz
Karolina
K
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