Hereditary motor and sensory neuropathy type I, associated with aplasia cutis congenital possible X‐linked inheritance

Castle D, Isaacs H, Ramsay M, Bernstein R. Hereditary motor and sensory neuropathy type I, associated with aplasia cutis congenita: possible X-linked inheritance. Clin Genet 1992:41: 108–110. We report a family with possible X-linked recessive HMSN I with minor signs of the disease and abnormal sensory conduction studies evident in female carriers. There is a previously undescribed association with aplasia cutis congenita in both affected males, and a history of a severe skull defect in a third male child, who died at birth. The latter defect usually shows an autosomal dominant pattern of inheritance.