NASOPALPEBRAL LIPOMA-COLOBOMA SYNDROME


AKARSU A. N. , SAYLI B.

CLINICAL GENETICS, vol.40, no.5, pp.342-344, 1991 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 40 Issue: 5
  • Publication Date: 1991
  • Doi Number: 10.1111/j.1399-0004.1991.tb03106.x
  • Title of Journal : CLINICAL GENETICS
  • Page Numbers: pp.342-344

Abstract

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.