New hereditary malformation syndrome of unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects.
We report on a new syndrome characterized by specific and striking facial abnormalities, arthrogrypotic skeletal deformities, and neuromuscular and sensory defects in a large Greek Cypriot family. The hereditary transmission appears to be autosomal dominant with quite variable expressivity.
Middleton
L T
LT
Cyprus Institute of Neurology and Genetics, Nicosia.
Anastasiades
V
V
Panayidou
K
K
Georghiou
D
D
Kalli
E
E
Gabriel
G
G
Myrianthopoulos
N C
NC
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000368:Aged; D001176:Arthrogryposis / Q000235:genetics*; D003286:Contracture / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005799:Genes, Dominant; D006628:Hirsutism / Q000235:genetics; D006801:Humans; D006987:Hypesthesia / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009468:Neuromuscular Diseases / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype