Musculoskeletal-facial Syndrome(Report of two cases)

Overview

Authors report two familial cases of asymmetric crying faces secondary to hypoplasia of depressor anguli orismuscle associated with severe musculoskeletal abnormalities.The siblings 7 year-old boy and 2 year-old girl were similarly affected.The craniofacial anomalies included facial asymmetry, prominent forehead, beaked nose, low set ears andunilateral partial lower facial weakness. There was left sided torticollis, fixed flexion deformities of the knees,elbows, wrists and the inter-phalangeal joints. The nails were hypoplastic. Skeletal survey documented mildosteopenia, minimal flattening of the knee epiphyses with bipartite patella, slender long bones and hypoplasia ofthe distal lateral aspect of the humeri.The clinical and radiographic constellation of these patients constitutes a hitherto not yet reported associationof DAOM hypoplasia with musculoskeletal abnormalities.

Key words:
facial asymmetry, depressor anguli oris muscle, arthrogryposis, osteoonychodysplasia