| The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with caf? au lait spots. | |
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MedLine Citation:
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PMID: 19834439 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Niikawa-Kuroki syndrome (Kabuki syndrome) is a multiple congenital anomaly syndrome of unknown etiology with a very wide spectrum of abnormalities and severity. The aim of this paper was to report the first case of the syndrome in Kazakhstan associated caf? au lait. Five year and half old boy from Kazakhstan (Uzbek-of Turk ethnicity) presented with dysmorphic facial features (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head, epicanthic folds short stature, delayed language development, hypotonia, bilateral developmental dysplasia of the hip (DDH), large ears and triangular chin, caf? au lait spots. The clinical diagnosis was based on the triad of characteristic facial abnormalities (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head), growth retardation, (DDH). In this paper the authors report the first case of Kabuki syndrome associated with caf? au lait spots. |
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Authors:
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A J Al Mosawi; L Fewin |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Giornale italiano di dermatologia e venereologia : organo ufficiale, Societ? italiana di dermatologia e sifilografia Volume: 144 ISSN: 0026-4741 ISO Abbreviation: G Ital Dermatol Venereol Publication Date: 2009 Oct |
Date Detail:
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Created Date: 2009-10-16 Completed Date: 2010-03-01 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8102852 Medline TA: G Ital Dermatol Venereol Country: Italy |
Other Details:
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Languages: eng Pagination: 613-5 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, University Hospital, Al kadhimiyia, Baghdad, Iraq. almosawiAJ@yahoo.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple* Cafe-au-Lait Spots / complications* Child, Preschool Craniofacial Abnormalities / complications* Humans Kazakhstan Male Phenotype Syndrome |
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