Article
Dominant distal arthrogryposis in a Maori family with marked variability of expression.
American journal of medical genetics - 13 Feb 1995
Klemp P, Hall J G
Abstract excerpt
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...
Topics
- Adult
- Arthrogryposis
- Female
- Foot
- Genes, Dominant
- Hand
- Humans
- Male
- New Zealand
- Pedigree
- Phenotype
- Syndrome
- White People