| Literature DB >> 1642262 |
H M Saal1, E I Traboulsi, P Gavaris, C A Samango-Sprouse, M Parks.
Abstract
We report on a mother and daughter with nonsyndromal cryptophthalmos. Both patients have additional ocular anomalies, including microphthalmia, retinal dysplasia, and Peters anomaly. The periocular and lid changes seen in these individuals are distinct from those seen in typical cryptophthalmos. The apparent dominant mode of inheritance in this family distinguishes this condition from autosomal recessive isolated cryptophthalmos and from the Fraser or cryptophthalmos syndrome.Entities:
Mesh:
Year: 1992 PMID: 1642262 DOI: 10.1002/ajmg.1320430505
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299