Case reports and Charcot-Marie-Tooth disease. Scoliosis may also be seen secondary to neurofibromatosis. Neurofibromatosis is a tempting explanation for the scoliosis and eye findings in these two brothers, especially in the light of the mental retardation, nerve deafness, and seizure disorder in the older of the two brothers. There were no skin manifestations in the propositi and no family history to support this diagnosis. X-linked recessive inheritance is a possible, but unlikely, explanation of the findings in these two brothers, in view of the absence of the condition in their mother's three brothers and her sisters' 12 sons. The close parental consanguinity and the strikingly similar clinical presentation in these two brothers suggest that this is an autosomal recessive condition. The absence of scoliosis or gaze palsy in any of the remaining nine sibs suggests that the scoliosis and gaze palsy are expressions of the same single autosomal recessive gene.
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