Apparent Lenz microphthalmia syndrome: A patient with unusual manifestations


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

Genetic Counseling, vol.19, no.2, pp.177-182, 2008 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 19 Issue: 2
  • Publication Date: 2008
  • Journal Name: Genetic Counseling
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.177-182
  • Keywords: Lenz Microphthalmia, anophthalmia, macrophallus, ANOPHTHALMIA, ANOMALIES
  • Lokman Hekim University Affiliated: Yes

Abstract

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.