Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy: an autosomal recessive trait.
Three sibs born to normal but consanguinous parents had flexion deformities of the thumb and fingers on one hand and sensory deficit in the other hand. Extensor muscles were absent or vestigial in all of them. Polyneuropathic electrophysiological findings were detected in 4 limbs. This is an apparently autosomal recessive trait previously unreported.
Hamanishi
C
C
Ueba
Y
Y
Tsuji
T
T
Ijiri
S
S
Mihara
T
T
Yamanaka
K
K
Yamamuro
T
T
D003286:Contracture / Q000235:genetics / Q000601:surgery; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000150:complications* / Q000235:genetics; D006801:Humans; D010375:Pedigree