Document Detail

Sorsby syndrome: a report on further generations of the original family.
MedLine Citation:
PMID:  3385739     Owner:  NLM     Status:  MEDLINE    
Sorsby syndrome is a dominantly inherited combination of bilateral macular colobomas and apical dystrophy of the hands and feet (brachydactyly type B). We report on a further three affected members of the family originally described by Sorsby. Two of these have a single kidney, two have hearing loss, and one has a uterine anomaly.
E M Thompson; M Baraitser
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  25     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1988 May 
Date Detail:
Created Date:  1988-08-08     Completed Date:  1988-08-08     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  313-21     Citation Subset:  IM    
Clinical Genetics Unit, Hospitals for Sick Children, London.
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MeSH Terms
Coloboma / genetics*
Foot Deformities, Congenital*
Genes, Dominant
Hand Deformities, Congenital*
Hearing Disorders / genetics
Kidney / abnormalities
Macula Lutea / abnormalities*
Uterus / abnormalities

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