A new form of autosomal dominant arthrogryposis.
We report a man and his son with congenital limb contractures, limitation of ocular movements, and an electroretinal abnormality. They appear to have an autosomal dominant form of arthrogryposis, distinguishable from other previously classified forms of this disorder.
Lai
M M
MM
SE Thames Regional Genetics Centre, Guy's Hospital, London.
Tettenborn
M A
MA
Hall
J G
JG
Smith
L J
LJ
Berry
A C
AC
D000328:Adult; D001176:Arthrogryposis / Q000175:diagnosis*; D003286:Contracture / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007596:Joints / Q000002:abnormalities; D008297:Male