[Ophthalmologic findings in 11 q-deletion syndrome].
A 5-year-old boy with deletion of the long arm of chromosome 11 presented with trigonocephaly, bilateral ptosis, epicanthus, antimongoloid lid axes, and bilateral iris coloboma. In order to avoid complication by a torticollis a Guyton-Friedenwald fadenoperation was performed. In 1981 Grosse et al. listed among the pediatric symptoms retarded development, ventricular septum defect, mitral stenosis, and skeletal and urogenital anomalies.
D001763:Blepharoptosis / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D003103:Coloboma / Q000235:genetics; D005128:Eye Diseases / Q000235:genetics*; D006801:Humans; D007498:Iris / Q000002:abnormalities; D008297:Male; D013285:Strabismus / Q000235:genetics; D013577:Syndrome
Ophthalmologische Befunde bei 11 q-Deletionssyndrom.