Apparent Lenz microphthalmia syndrome: A patient with unusual manifestations

Okumus N., Zenciroglu A., Demrel N., Bas A., CEYLANER S.

Genetic Counseling, cilt.19, sa.2, ss.177-182, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 2
  • Basım Tarihi: 2008
  • Dergi Adı: Genetic Counseling
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.177-182
  • Anahtar Kelimeler: Lenz Microphthalmia, anophthalmia, macrophallus, ANOPHTHALMIA, ANOMALIES
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

Lenz microphthalmia syndrome was first described by Lenz et al. in 1955 (9). The cardinal features of the syndrome are microphthalmia or anophthalmia, microcephaly, mental retardation, external ear, digital, cardiac, skeletal, dental and genitourinary anomalies. Here we present a case of Lenz microphthalmia syndrome that shows the typical characteristics and, additionally, macrophallus, a broad chest with widely spaced nipples, wide gap between first and second toes, which are unusual manifestations in Lenz Microphthalmia Syndrome.