Crome Syndrome

Crome et al. (1963) described 2 female infants with an identical disorder--congenital cataracts, epileptic fits, mental retardation, small stature, and death (at 4 and 8 months). Postmortem showed renal tubular necrosis and encephalopathy. The parents were first cousins. Similarities to Marinesco-Sjogren syndrome (248800) and to Lowe syndrome (309000) were pointed out. The latter is an X-linked recessive. The former is autosomal recessive but renal change has not been described and survival to a later age is usual.