New syndromes of mental retardation.
During a survey of a selected group of residents of an institution for the mentally retarded, four previously undescribed syndromes were found. They were characterized as follows: cerebral maldevelopment, dwarfism and cataracts (autosomal recessive inheritance); cerebral maldevelopment, dwarfism and facial osteoproliferation (autosomal recessive inheritance); cerebral maldevelopment and colobomata (autosomal recessive inheritance); and cerebral maldevelopment and acrocephaly (X-linked recessive inheritance).
D000015:Abnormalities, Multiple / Q000235:genetics*; D000168:Acrocephalosyndactylia / Q000150:complications; D000293:Adolescent; D001921:Brain / Q000002:abnormalities; D002386:Cataract / Q000150:complications / Q000235:genetics; D002648:Child; D002829:Choroid / Q000002:abnormalities; D003103:Coloboma / Q000150:complications; D003241:Consanguinity; D004392:Dwarfism / Q000150:complications* / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D012160:Retina / Q000002:abnormalities; D013577:Syndrome