Bruck syndrome: second antenatal diagnosis

Area of Science:

• Genetics
• Orthopedics
• Pediatrics

Background:

• Bruck syndrome is a rare autosomal recessive disorder.
• It is characterized by arthrogryposis and osteogenesis imperfecta.
• The condition is associated with normal collagen I.

Observation:

• This study describes a case of Bruck syndrome in a French girl.
• The patient presented with congenital joint contractures, specifically in the ankles and wrists.
• These contractures were identified during the second antenatal discovery.

Findings:

• Bruck syndrome main features include osteoporosis, long bone bowing, and scoliosis.
• Vertebral deformities and congenital joint contractures are key indicators.
• The described patient exhibited ankle and wrist contractures.

Implications:

• This case contributes to understanding Bruck syndrome's clinical presentation.
• Early diagnosis of congenital joint contractures is crucial.
• Further research may elucidate genotype-phenotype correlations in Bruck syndrome.