Panhypopituitary insufficiency in a patient with clinical diagnosis of Chitayat-Hall syndrome.

[wolf-hirschhorn 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 .