| Cleft Hand in Kabuki Make-Up Syndrome: Case Report. | |
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MedLine Citation:
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PMID: 21411242 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Kabuki make-up syndrome (KMS) is a multiple malformation/mental retardation syndrome that was first described in Japan but is now reported in many other ethnic groups. Kabuki make-up syndrome is characterized by multiple congenital abnormalities: craniofacial, skeletal, and dermatoglyphic abnormalities; mental retardation; and short stature. Common hand anomalies associated with KMS include persistent fingertip pad, brachydactyly, clinodactyly, and lax joints. We report a patient with KMS who presented with cleft hand, a feature that has not yet been described in KMS, and describe the potential genetic cause. |
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Authors:
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Jung Kyu Huh; Moon Sang Chung; Goo Hyun Baek; Joo Han Oh; Young Ho Lee; Hyun Sik Gong |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-3-15 |
Journal Detail:
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Title: The Journal of hand surgery Volume: - ISSN: 1531-6564 ISO Abbreviation: - Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-3-17 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7609631 Medline TA: J Hand Surg Am Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Orthopaedics, Hand and Upper Extremity Service, Seoul National University Bundang Hospital, Seongnam, Korea. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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