Bruck syndrome: second antenatal diagnosis.
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).
Cuillier
F
F
Department of Gynecology, Hôpital Felix Guyon, Saint-Denis, Réunion, France. fabrice.cuillier@wanadoo.fr
Alessandri
J L
JL
Lemaire
P
P
Fritel
X
X
Harper
L
L
D000328:Adult; D001176:Arthrogryposis / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010013:Osteogenesis Imperfecta / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome