Mental And Growth Retardation With Amblyopia

Sato et al. (1989) described 3 sisters and their father who had a reciprocal balanced translocation t(8;11)(q24.3;p15.1) and the same abnormal phenotype including mental retardation, growth deficiency, and amblyopia. The patients did not have features of either the Langer-Giedion syndrome (150230) or of the Beckwith-Wiedemann syndrome (130650). Sato et al. (1989) suggested that the syndrome might be due to a mutation at the breakpoint either on 11p or 8q. They favored the former because in a review of reported patients with deletion in the 11p15 area, many ophthalmologic symptoms such as glaucoma, cataracts, nystagmus, ptosis, and exotropia have been described in addition to aniridia (Gilgenkrantz et al., 1982).