title: Dominant distal arthrogryposis in a Maori family with marked variability of expression.
abstract: The index case was a Maori bushman who presented with severe congenital spinal stenosis and manifestations of distal arthrogryposis. His offspring and 8 of his 9 sibs and most of their offspring were interviewed and examined. Of those examined 7 individuals with definite and 2 with probable distal arthrogryposis were identified in 4 of the families. A tenth relative with distal arthrogryposis and contractural arachnodactyly had died. There was marked variability in the severity and nature of manifestations with 2 having severe hand and foot involvement in addition to craniofacial changes compatible with a diagnosis of Freeman-Sheldon syndrome. Other apparently unrelated hereditary disorders in the family included ectrodactyly, biliary atresia, and Brachmann-de Lange syndrome. This is the first report of arthrogryposis in a Maori family.
authors.affiliation: Queen Elizabeth Hospital, Rotorua, New Zealand.
authors.forename: P
authors.initials: P
authors.lastname: Klemp
authors.forename: J G
authors.initials: JG
authors.lastname: Hall
mesh_terms: D000328:Adult; D001176:Arthrogryposis / Q000145:classification / Q000235:genetics* / Q000473:pathology; D005260:Female; D005528:Foot / Q000473:pathology; D005799:Genes, Dominant; D006225:Hand / Q000473:pathology; D006801:Humans; D008297:Male; D009520:New Zealand; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D044465:White People / Q000235:genetics