Document Detail

Upper limb defect associated with developmental delay, unilateral poorly developed antihelix, hearing deficit, and bilateral choroid coloboma: a new syndrome.
MedLine Citation:
PMID:  1518028     Owner:  NLM     Status:  MEDLINE    
Two sibs are reported with upper limb defect, developmental delay, central hearing loss, unilateral poorly developed antihelix, and bilateral choroid coloboma. The inheritance is probably autosomal recessive.
J R Ward; C Saad de Owens; I A Sierra
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  29     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1992 Aug 
Date Detail:
Created Date:  1992-10-06     Completed Date:  1992-10-06     Revised Date:  2010-09-07    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  589-91     Citation Subset:  IM    
Clinical Genetics Section, Complejo Hospitalario Metropolitano de la Caja del Seguro Social Arnulfo Arias M, Panama City, Panama.
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MeSH Terms
Abnormalities, Multiple / genetics*
Arm / abnormalities*
Ear / abnormalities*
Genes, Recessive
Genetic Counseling
Hearing Disorders / genetics*

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