Literature DB >> 24131950

Lenz micropthalmia syndrome with associated orbital cysts.

Leon Rafailov1, Michael Dattilo, Roman Shinder.   

Abstract

An 8-year-old boy presented for oculoplastic evaluation of bilateral microphthalmia. He had multiple other congenital anomalies, including microcephaly, wide-spaced teeth, sloping shoulders, protruding ears, syndactyly, a posterior urethral valve, cystic dysplasia of the kidneys, and a bicuspid aortic valve. Taken together, these findings supported the diagnosis of Lenz microphthalmia syndrome. CT of the orbits revealed bilateral microphthalmic globes with associated colobomatous cysts. To the authors' knowledge, this is the first reported case of Lenz microphthalmia syndrome with associated orbital cysts.

Entities:  

Mesh:

Year:  2014        PMID: 24131950     DOI: 10.1097/IOP.0b013e31829f3b29

Source DB:  PubMed          Journal:  Ophthalmic Plast Reconstr Surg        ISSN: 0740-9303            Impact factor:   1.746


  2 in total

1.  Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant.

Authors:  Yujia Zhou; Antonina Wojcik; Victoria R Sanders; Bahram Rahmani; Sudhi P Kurup
Journal:  Int Ophthalmol       Date:  2017-10-22       Impact factor: 2.031

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

北京卡尤迪生物科技股份有限公司 © 2022-2023.