Vol 61, No 3 (2010)
Case report
Published online: 2010-07-02

open access

Page views 837
Article views/downloads 2061
Get Citation

Connect on Social Media

Connect on Social Media

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

Robert Smigiel, Aleksander Basiak, Blazej Misiak, Karolina Pesz
Endokrynol Pol 2010;61(3):318-321.


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)

Article available in PDF format

View PDF Download PDF file