| Temple-Baraitser syndrome: a rare and possibly unrecognized condition. | |
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MedLine Citation:
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PMID: 20683999 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Temple-Baraitser syndrome, previously described in two unrelated patients, is the association of severe mental retardation and abnormal thumbs and great toes. We report two additional unrelated patients with Temple-Baraitser syndrome, review clinical and radiological features of previously reported cases and discuss mode of inheritance. Patients share a consistent pattern of anomalies: hypo or aplasia of the thumb and great toe nails and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. All patients were born to unrelated parents and occurred as a single occurrence in multiple sibships, suggesting sporadic inheritance from a de novo mutation mechanism. Comparative genomic hybridization in Patients 1, 2 and 3 did not reveal any copy number variations. We confirm that Temple-Baraitser syndrome represents a distinct syndrome, probably unrecognized, possibly caused by a de novo mutation in a not yet identified gene. |
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Authors:
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Adeline Jacquinet; Marion Gérard; Michael T Gabbett; Léon Rausin; Jean-Paul Misson; Björn Menten; Geert Mortier; Lionel Van Maldergem; Alain Verloes; François-Guillaume Debray |
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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: 2322-6 Citation Subset: IM |
Affiliation:
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Center for Human Genetics, CHU & University of Liège, Liège, Belgium. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple Adult Child Family Female Humans Infant Inheritance Patterns* Male Mental Retardation* Middle Aged Rare Diseases / diagnosis*, genetics Thumb / abnormalities* Toes / abnormalities* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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