| Literature DB >> 24131950 |
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