Vol 61, No 3 (2010)
Case report
Published online: 2010-07-02
Panhypopituitary insufficiency in a patient with clinical diagnosis of Chitayat-Hall syndrome
Endokrynol Pol 2010;61(3):318-321.
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.
(Pol J Endocrinol 2010; 61 (3): 318-321)
(Pol J Endocrinol 2010; 61 (3): 318-321)
Keywords: Chitayat-Hall syndromecongenital distal limb contracturespanhypopituitarismfacial dysmorphism
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