open access

Vol 61, No 3 (2010)
Case report
Published online: 2010-07-02
Submitted: 2013-02-15
Get Citation

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

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

open access

Vol 61, No 3 (2010)
Case report
Published online: 2010-07-02
Submitted: 2013-02-15

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)

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)
Get Citation

Keywords

Chitayat-Hall syndrome; congenital distal limb contractures; panhypopituitarism; facial dysmorphism

About this article
Title

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

Journal

Endokrynologia Polska

Issue

Vol 61, No 3 (2010)

Pages

318-321

Published online

2010-07-02

Bibliographic record

Endokrynologia Polska 2010;61(3):318-321.

Keywords

Chitayat-Hall syndrome
congenital distal limb contractures
panhypopituitarism
facial dysmorphism

Authors

Robert Smigiel
Aleksander Basiak
Blazej Misiak
Karolina Pesz

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