title: New hereditary malformation syndrome of unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects.
abstract: 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.
authors: Cyprus Institute of Neurology and Genetics, Nicosia.
authors: L T
authors: LT
authors: Middleton
authors: V
authors: V
authors: Anastasiades
authors: K
authors: K
authors: Panayidou
authors: D
authors: D
authors: Georghiou
authors: E
authors: E
authors: Kalli
authors: G
authors: G
authors: Gabriel
authors: N C
authors: NC
authors: Myrianthopoulos
mesh_terms: 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