title: Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate.
abstract: 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.
authors.affiliation: Institute of Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom.
authors.forename: D
authors.initials: D
authors.lastname: Ravine
authors.forename: N K
authors.initials: NK
authors.lastname: Ragge
authors.forename: D
authors.initials: D
authors.lastname: Stephens
authors.forename: M
authors.initials: M
authors.lastname: Oldridge
authors.forename: A O
authors.initials: AO
authors.lastname: Wilkie
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003103:Coloboma / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006417:Hematuria / Q000235:genetics; D006801:Humans; D008297:Male; D008850:Microphthalmos / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome