| Autosomal dominant aplasia cutis in three generations and one case with preaxial polydactyly in the last generation. | |
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MedLine Citation:
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PMID: 21614989 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Aplasia Cutis Congenita (ACC), characterized by the focal absence of the skin and skin adnexia resulting from a developmental failure, may occur as part of Adams-Oliver Syndrome (AOS) which can be defined as a congenital inherited disorder, consisting of terminal transverse limb defects and vascular anomalies in addition to ACC. Coexistence of isolated preaxial polydactyly without terminal extremity defect and ACC is extremely rare. Furthermore, ACC and preaxial polydactyly has not been reported previously. Here we report a three-generation family with autosomal dominant aplasia cutis congenita and preaxial polydactyly in the last generation and discuss whether it is a coincidence or not. |
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Authors:
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B Yağci-Küpeli; K Qağlar; S Büyük; S Balci |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Genetic counseling (Geneva, Switzerland) Volume: 22 ISSN: 1015-8146 ISO Abbreviation: Genet. Couns. Publication Date: 2011 |
Date Detail:
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Created Date: 2011-05-27 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9015261 Medline TA: Genet Couns Country: Switzerland |
Other Details:
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Languages: eng Pagination: 55-61 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Hacettepe University Faculty of Medicine, Ihsan Doğramaci Children Hospital 06100, Ankara,Turkey. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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