A distinct dysmorphic syndrome with spinocerebellar ataxia and probable autosomal recessive inheritance

摘要

Two brothers and their sister aged 8, 13, and 7 years were found to have unusual facies (gross, rough and abundant hair, wide forehead, mild palperbral ptosis, small nose, anteverted nostrils, thick lips, and down-slanting corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, feet deformities, and limb and gait ataxia. The characteristic clinical picture in the three sibs, once compared with other ataxic syndromes, allowed one to conclude that this could correspond to a distinct entity probably inherited as an autosomal recessive disorder.