| Wiedemann-Steiner syndrome: three further cases. | |
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MedLine Citation:
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PMID: 20803650 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe three patients with a syndrome comprising arched, thick eyebrows, hypertelorism, narrow palpebral fissures, broad nasal bridge and tip, long philtrum, thin upper lip, stubby hands and feet, hirsutism, and severe psychomotor retardation. These patients expand the phenotype of the Wiedemann-Steiner syndrome and delineate it as an entity. |
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Authors:
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Rainer Koenig; Peter Meinecke; Alma Kuechler; Dieter Schäfer; Dietmar Müller |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-08-30 Completed Date: 2010-12-15 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2372-5 Citation Subset: IM |
Affiliation:
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Institut für Humangenetik der Johann Wolfgang Goethe Universität, Frankfurt, Germany. r.koenig@em.uni-frankfurt.de |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis* Child Child, Preschool Face / abnormalities Female Foot Deformities, Congenital Hand Deformities, Congenital Humans Male Mental Retardation Psychomotor Disorders |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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