Autosomal Recesssive Microcephaly, Microcornea, Congenital Cataract, Mental Retardation, Optic Atrophy, and Hypogenitalism
- 1 December 1993
- journal article
- case report
- Published by American Medical Association (AMA) in American Journal of Diseases of Children
- Vol. 147 (12) , 1309-1312
- https://doi.org/10.1001/archpedi.1993.02160360051017
Abstract
• Three affected children from an inbred family had microcornea, microcephaly, congenital cataract, severe mental retardation, retinal dystrophy, optic nerve atrophy, hypothalamic hypogenitalism, and agenesis of the corpus callosum. The disorder is presumably autosomal recessive; no identical syndrome has been described, but we consider syndromes with similar features. (AJDC. 1993;147:1309-1312)Keywords
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