Cyprus Facial Neuromusculoskeletal Syndrome

In 3 generations of a Greek Cypriot family, Middleton et al. (1992) described what appeared to be a new hereditary syndrome characterized by specific and striking facial characteristics and more variable skeletal deformities, as well as neuromuscular abnormalities. The facial appearance consisted of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, elevation of the medial portion of the eyebrows bilaterally 'giving a Mephistophelian appearance,' hypertelorism, and widow's peak. The variable skeletal features included congenital talipes equinovarus, and dislocation of the hips, as well as kyphoscoliosis. Neurologic and musculoskeletal defects were severe and incapacitating in some. All affected members were of normal intelligence. One member of the family who was thought to have only mild facial manifestations of the disorder was found on examination to have marked kyphoscoliosis, weakness and wasting of arms and legs, and mild sensory changes.