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Bruck syndrome: second antenatal diagnosis
F Cuillier1, J L Alessandri, P Lemaire
1Department of Gynecology, Hôpital Felix Guyon, Saint-Denis, Réunion, France. fabrice.cuillier@wanadoo.fr
Abstract:
Bruck syndrome is characterized by the association of arthrogryposis and osteogenesis imperfecta. It is a distinct autosomal recessive disorder associated with normal collagen I. The main features are osteoporosis, long bone bowing and scoliosis due to vertebral deformities and congenital joint contractures. We describe a French girl who was born with ankle and wrist contractures (second antenatal discovery).
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