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Three distinct types of X‐linked arthrogryposis seen in 6 families
Author(s) -
Hall J. G.,
Reed S. D.,
Scott C. I.,
Rogers J. O.,
Jones K. L.,
Camarano A.
Publication year - 1982
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1982.tb00742.x
Subject(s) - arthrogryposis , muscle contracture , medicine , pediatrics , anatomy
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, three 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: (1) Severe lethal X‐linked arthrogryposis with severe contractures, scoliosis, chest deformities, hypotonia, and death due to respiratory insufficiency within 3 months of birth (1 family); (2) Moderately severe X‐linked arthrogryposis with severe contractures, ptosis, microphallus, cryptorchidism, inguinal hernias, and normal intelligence (2 families); and (3) Resolving X‐linked arthrogryposis with mild to moderate contractures at birth which improve dramatically with time (2 families and 1 sporadic case).