NASOPALPEBRAL LIPOMA-COLOBOMA SYNDROME


AKARSU A. N. , SAYLI B.

CLINICAL GENETICS, cilt.40, sa.5, ss.342-344, 1991 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Özet

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.