| The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. | |
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MedLine Citation:
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PMID: 19610107 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD) is often referred to as the eponymous Adams-Oliver syndrome (AOS). The molecular basis of this disorder remains unknown, although the common occurrence of cardiac and vascular anomalies suggests a primary defect of vasculogenesis. Through the description of three previously unreported affected individuals, ascertained through the Adams-Oliver Syndrome European Consortium, we illustrate the phenotypic variability characteristically observed within extended families with AOS. Taken in combination with a detailed review of the available literature, we provide evidence for distinct clinical entities within the ACC/TTLD spectrum, which may reflect genetic heterogeneity within this spectrum of disorders. |
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Authors:
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Katie M G Snape; Deborah Ruddy; Martin Zenker; Wim Wuyts; Margo Whiteford; Diana Johnson; Wayne Lam; Richard C Trembath |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Aug |
Date Detail:
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Created Date: 2009-07-30 Completed Date: 2009-09-30 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: 1860-81 Citation Subset: IM |
Copyright Information:
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2009 Wiley-Liss, Inc. |
Affiliation:
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Guy's and St Thomas' NHS Hospital Trust/Kings College London, NIHR Biomedical Research Centre, UK. richard.trembath@kcl.ac.uk |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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pathology Child Child, Preschool Chromosome Aberrations Diagnosis, Differential Ectodermal Dysplasia / complications*, diagnosis, pathology* Female Humans Infant Infant, Newborn Limb Deformities, Congenital / complications*, diagnosis, pathology* Phenotype |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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