An oculocerebral hypopigmentation syndrome.
An oculocerebral hypopigmentation syndrome consisting of growth retardation, dolichocephaly, cataracts, high arched palate, small, widely spaced teeth, generalized hypopigmentation, psychomotor retardation, progressive neurological manifestations and hypochromic anemia is described in sibs. The finding of parental consanguinity supports autosomal recessive inheritance. The syndrome resembles the Cross syndrome (1,2).
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D010859:Pigmentation Disorders / Q000235:genetics* / Q000473:pathology; D013577:Syndrome