Apparent Lenz microphthalmia syndrome: a patient with unusual manifestations
Okumus, N.; Zenciroglu, A.; Demirel, N.; Bas, A.Y.; Ceylaner, S.
Genetic Counseling 19(2): 177-182
2008
ISSN/ISBN: 1015-8146 PMID: 18618992 Document Number: 615550
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.