Literature DB >> 18618992

Apparent Lenz microphthalmia syndrome: a patient with unusual manifestations.

N Okumus1, A Zenciroglu, N Demirel, A Y Bas, S Ceylaner.   

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.

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Year:  2008        PMID: 18618992

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  2 in total

1.  Cut-offs for stretched penile length in neonates.

Authors:  Devi Dayal; Anil Kumar Bhalla
Journal:  Indian J Endocrinol Metab       Date:  2015 Jan-Feb

Review 2.  Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature.

Authors:  Matteo Monticelli; Raffaele De Marco; Diego Garbossa
Journal:  Childs Nerv Syst       Date:  2021-01-25       Impact factor: 1.475

  2 in total

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