title: Bruck syndrome: second antenatal diagnosis.
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).
authors.affiliation: Department of Gynecology, Hôpital Felix Guyon, Saint-Denis, Réunion, France. fabrice.cuillier@wanadoo.fr
authors.forename: F
authors.initials: F
authors.lastname: Cuillier
authors.forename: J L
authors.initials: JL
authors.lastname: Alessandri
authors.forename: P
authors.initials: P
authors.lastname: Lemaire
authors.forename: X
authors.initials: X
authors.lastname: Fritel
authors.forename: L
authors.initials: L
authors.lastname: Harper
mesh_terms: 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