NASOPALPEBRAL LIPOMA-COLOBOMA SYNDROME

AKARSU A. N., SAYLI B.

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

  • Publication Type: Article / Article
  • Volume: 40 Issue: 5
  • Publication Date: 1991
  • Doi Number: 10.1111/j.1399-0004.1991.tb03106.x
  • Journal Name: CLINICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.342-344
  • Hacettepe University Affiliated: Yes

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.