Document Detail


Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features.
MedLine Citation:
PMID:  10779849     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Six cases of Kabuki syndrome (KS) with ocular anomalies are reported and the variety of ocular features reported in the literature for this syndrome is described. Routine ocular examinations are recommended for every patient with KS because of the high proportion of ocular anomalies found in these patients, the presence of which can hamper development if not adequately addressed.
Authors:
I Kluijt; D B van Dorp; M L Kwee; A Toutain; K Keppler-Noreuil; M Warburg; P Bitoun
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Ophthalmic genetics     Volume:  21     ISSN:  1381-6810     ISO Abbreviation:  Ophthalmic Genet.     Publication Date:  2000 Mar 
Date Detail:
Created Date:  2000-07-12     Completed Date:  2000-07-12     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  51-61     Citation Subset:  IM    
Affiliation:
Department of Clinical Genetics, Free University Hospital, Amsterdam, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Bone and Bones / abnormalities*
Child, Preschool
Dermatoglyphics*
Eye Diseases / complications*
Facies*
Female
Growth Disorders / complications*
Humans
Infant
Male
Mental Retardation / complications*
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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