Sclerocornea associated with the Smith-Lemli-Opitz syndrome.
A 2,000-g infant boy had many features of the Smith-Lemli-Opitz syndrome (prenatal growth deficiency and developmental retardation, microcephaly with unusual facies, hypospadias, and feeding difficulties) as well as sclerocornea. The association of this rare eye finding with this rare congenital syndrome is unique. Successful penetrating keratoplasty was performed in one eye at 8 months of age.
D000015:Abnormalities, Multiple; D003315:Cornea / Q000002:abnormalities* / Q000098:blood supply / Q000601:surgery; D003316:Corneal Diseases / Q000150:complications / Q000601:surgery; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000150:complications; D012590:Sclera / Q000002:abnormalities*; D013577:Syndrome