This is the scan of a 38-year-old woman G3, P2. She had earlier ultrasound scans at 12 and 22 weeks that were reported as normal. There was no significant past medical, obstetric or family history. An amniocentesis was performed which revealed a 46, XX karyotype. The following images were obtained at 32 weeks of gestation:

Bilateral club feet and contractures of the wrist were observed. Three possibilities were considered:
1. Osteogenesis imperfecta
2. Stuve Wiedemann syndrome or
3. Campomelic dysplasia

The baby girl was born by C-section at 39 weeks. A right fractured femur was noted. Contractures of the wrist, ankle and knees were also seen. Wormian bones were seen by radiography.

The association of congenital joint contractures and osteogenesis imperfecta signs was pathognomonic of Bruck syndrome.

Orthopedic treatment was offered to the baby and she left the hospital at 10 days. She was seen a month later and the growth appeared normal.

Bruck syndrome is thought to be a subtype of osteogenesis imperfecta 3. Bruck syndrome manifests with combined features of arthrogryposis and osteogenesis imperfecta. Bruck syndrome is characterized by joint contractures at birth and fragile bones resulting in short stature due to progressive skeletal deformities. The presence of arthrogryposis differentiates this syndrome from "classical" osteogenesis imperfecta. In contrast to osteogenesis imperfecta, patients of Bruck syndrome do not have blue sclerae or hearing loss. Mental development is normal.