Bruck syndrome: second antenatal diagnosis

Fetal Diagn Ther. 2007;22(1):23-8. doi: 10.1159/000095838. Epub 2006 Sep 21.

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).

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arthrogryposis / diagnosis*
  • Female
  • Humans
  • Infant, Newborn
  • Osteogenesis Imperfecta / diagnosis*
  • Pregnancy
  • Prenatal Diagnosis*
  • Syndrome