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Clinical Pediatrics
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Oculo-Cerebro-Renal Syndrome

A Four Generation Family Study and Case Reports of Two Living Children

Grace E. Holinies

Department of Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, Department of Pediatrics, Kilimanjaro Christian Medical Center, Moshi, Tanzania, East Africa

Virginia Tucker

Department of Pediatrics, University of Kansas Medical Center, Kansas City, Kansas 66103

The clinical, anatomical and biochemical variations in this disease are well demonstrated in the family here described. The transmission of the syndrome in this family seems to be by means of an X-linked gene. The presence of lenticular opaci ties in all mothers of affected males may indicate an X-linked, partially dominant, or intermediate transmission pattern. The observed delay in the appearance of hyperaminoaciduria in one youngster is suggestive of a progressive renal tubular lesion.

Clinical Pediatrics, Vol. 11, No. 2, 119-124 (1972)
DOI: 10.1177/000992287201100223
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