Musculoskeletal-facial Syndrome
(Report of two cases)
Al Kassi A.1, Nessib N.1, Ghachem M. B,1, Hammou A.2, Guiddana N.3, Kozlowski K.4
Departments of Paediatric Orthopaedics1, Paediatric Radiology2, Pediatrics3 Children's Hospital, Tunis, Tunesia Department of Medical Imaging, New Children's Hospital,Westmead, Sydney, Australia4 |
|
Summary:
Authors report two familial cases of asymmetric crying faces secondary to hypoplasia of depressor anguli oris
muscle 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 and
unilateral 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 mild
osteopenia, minimal flattening of the knee epiphyses with bipartite patella, slender long bones and hypoplasia of
the distal lateral aspect of the humeri.
The clinical and radiographic constellation of these patients constitutes a hitherto not yet reported association
of DAOM hypoplasia with musculoskeletal abnormalities.
Key words:
facial asymmetry, depressor anguli oris muscle, arthrogryposis, osteoonychodysplasia
|