Nasopalpebral lipoma-coloboma syndrome.
An autosomal dominant dysplasia-malformation syndrome affecting seven individuals in one family is reported. The components of the syndrome include congenital nasopalpebral lipoma, telecanthus, and bilateral colobomas of upper and lower lids without midface hypoplasia. It appears to be the second recorded example resulting from an autosomal dominant gene fully penetrant in both sexes.
Akarsu
A N
AN
Department of Medical Biology and Genetics, Ankara University Medical Faculty, Sihhiye, Turkey.
Sayli
B S
BS
D002675:Child, Preschool; D003103:Coloboma / Q000150:complications / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D006801:Humans; D008067:Lipoma / Q000150:complications / Q000235:genetics*; D008297:Male; D009666:Nose / Q000002:abnormalities*; D010375:Pedigree; D013577:Syndrome