Three distinct types of X-linked arthrogryposis seen in 6 families.
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 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).
D001176:Arthrogryposis / Q000145:classification* / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012730:Sex Chromosomes; D014960:X Chromosome