| Imperforate anus is a rare associated finding in blepharocheilodontic syndrome. | |
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MedLine Citation:
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PMID: 20101698 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Blepharocheilodontic (BCD) syndrome is a rare autosomal-dominant condition that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. It exhibits considerable phenotypic variability among affected individuals. An additional rare associated manifestation is imperforate a.u. (IA), which has been reported in three cases [Guyuron et al. (1995); J Craniofac Surg 6:392-394; Gorlin et al. (1996); Am J Med Genet 65:109-112; da Silva Lopes et al. (2003); Am J Med Genet Part A 121A:266-270]. Here we report on a family with BCD that includes IA, confirming that anorectal anomalies are a part of BCD syndrome. |
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Authors:
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K Nicole Weaver; Katherine D Rutledge; John H Grant; Nathaniel H Robin |
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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 Feb |
Date Detail:
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Created Date: 2010-02-01 Completed Date: 2010-04-02 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: 438-40 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Wiley-Liss, Inc. |
Affiliation:
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University of Alabama School of Medicine, Birmingham, Alabama, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis*,
genetics* Anus, Imperforate / genetics* Child, Preschool Cleft Lip / genetics Cleft Palate / genetics Ectropion / genetics* Eyelids / abnormalities* Female Genes, Dominant Humans Infant Pedigree Phenotype Syndrome* Tooth Abnormalities / genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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