| Literature DB >> 11135494 |
S Bonnel1, P Dureau, M LeMerrer, J L Dufier.
Abstract
We describe a case of the SHORT syndrome and compare it with previously published cases. This six-year-old girl shows nearly all the typical manifestations reported in patients with the SHORT syndrome, including lipoatrophy, minor facial anomalies, Rieger anomaly, and short stature. However, she also suffers from high hyperopia and astigmatism associated with poor visual acuity.Entities:
Mesh:
Year: 2000 PMID: 11135494
Source DB: PubMed Journal: Ophthalmic Genet ISSN: 1381-6810 Impact factor: 1.803