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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.


Journal article


Am J Med Genet

Publication Date





227 - 236


Abnormalities, Multiple, Adolescent, Adult, Aged, Child, Child, Preschool, Cleft Lip, Cleft Palate, Coloboma, Female, Genes, Dominant, Hearing Loss, Sensorineural, Hematuria, Humans, Male, Microphthalmos, Middle Aged, Pedigree, Syndrome