Three distinct types of X‐linked arthrogryposis seen in 6 families

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Abstract
Six families with arthrogryposis (congenital contractures) inherited in an X-linked recessive manner are reported. Family histories from a study of over 350 patients with congenital contractures of the joints (arthrogryposis) were reviewed and of these, 3 probands had family histories consistent with X-linked recessive inheritance. Three other families were recognized through correspondence. Three forms of X-linked recessively inherited arthrogryposis are described: severe lethal X-linked arthrogryopsis with severe contractures, scoliosis, chest deformities, hypotonia, and death due to respiratory insufficiency within 3 mo. of birth (1 family); moderately severe X-linked arthrogryposis with severe contractures, ptosis, microphallus, cryptorchidism, inguinal hernias, and normal intelligence (2 families); and resolving X-linked arthrogryposis with mild to moderate contractures at birth which improve dramatically with time (2 families and 1 sporadic case).