Hereditary motor and sensory neuropathy type I, associated with aplasia cutis congenita: possible X-linked inheritance.
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.
Castle
D
D
Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg.
Isaacs
H
H
Ramsay
M
M
Bernstein
R
R
D000293:Adolescent; D000368:Aged; D000369:Aged, 80 and over; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics*; D002648:Child; D004476:Ectodermal Dysplasia / Q000150:complications / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D014960:X Chromosome