| Panhypopituitary insufficiency in a patient with clinical diagnosis of Chitayat-Hall syndrome. | |
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MedLine Citation:
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PMID: 20602308 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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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. |
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Authors:
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Robert Smigiel; Aleksander Basiak; Blazej Misiak; Karolina Pesz |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Endokrynologia Polska Volume: 61 ISSN: 0423-104X ISO Abbreviation: Endokrynol Pol Publication Date: 2010 May-Jun |
Date Detail:
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Created Date: 2010-07-05 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0370674 Medline TA: Endokrynol Pol Country: Poland |
Other Details:
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Languages: eng Pagination: 318-21 Citation Subset: IM |
Affiliation:
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Genetics Department, Medical University, Wroclaw. smigiel@gen.am.wroc.pl |
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