NASOPALPEBRAL LIPOMA-COLOBOMA SYNDROME

AKARSU A. N., SAYLI B.

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

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 40 Sayı: 5
  • Basım Tarihi: 1991
  • Doi Numarası: 10.1111/j.1399-0004.1991.tb03106.x
  • Dergi Adı: CLINICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.342-344
  • Hacettepe Üniversitesi Adresli: Evet

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.