Document Detail

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate.
MedLine Citation:
PMID:  9382148     Owner:  NLM     Status:  MEDLINE    
Ocular colobomas and microphthalmos, isolated or as part of a syndrome, are usually sporadic and only rarely found in large families. A 4-generation family with autosomal dominant uveal coloboma and microphthalmos associated with cleft lip and palate was re-evaluated. Wide variability in expression is evident and more recently recognized manifestations include a complete spectrum of eye involvement, impairment of extraocular movement, mid-frequency sensorineural hearing loss, and hematuria. Learning difficulties requiring remedial teaching were present in one third of those affected and a neural tube defect has occurred in one presumed affected member. This family appears to present a unique phenotype, which provides an opportunity to identify a genetic locus involved in eye, ear, renal, primary palate, and brain development.
D Ravine; N K Ragge; D Stephens; M Oldridge; A O Wilkie
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  72     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1997 Oct 
Date Detail:
Created Date:  1997-11-12     Completed Date:  1997-11-12     Revised Date:  2009-09-29    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  227-36     Citation Subset:  IM    
Institute of Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom.
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MeSH Terms
Abnormalities, Multiple / genetics*
Child, Preschool
Cleft Lip / genetics
Cleft Palate / genetics
Coloboma / genetics
Genes, Dominant*
Hearing Loss, Sensorineural / genetics
Hematuria / genetics
Microphthalmos / genetics
Middle Aged
Grant Support
//Wellcome Trust

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