Cataracts, aberrant oral frenula, and growth retardation: a new autosomal dominant syndrome.
We report on a mother and her two children with an autosomal dominant cataract syndrome with associated aberrant oral frenula, growth retardation, and specific facial appearance. Their phenotype differs from that of other reported cataract syndromes, and we conclude that this is a previously undescribed entity.
Wellesley
D
D
Department of Genetics, Princess Margaret Hospital for Children, Subiaco, Australia.
Carman
P
P
French
N
N
Goldblatt
J
J
D000328:Adult; D002386:Cataract / Q000235:genetics*; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D009055:Mouth / Q000473:pathology*; D013577:Syndrome