A Rare Case of Bruck Syndrome Type 2 in Siblings With Broad Phenotypic Variability

Background: Bruck syndrome is a rare autosomal recessive condition that presents with many of the symptoms of osteogenesis imperfecta. In addition to defective type I collagen, manifesting as bone fragility, osteoporosis, and blue sclera, Bruck syndrome is additionally characterized by arthrogryposis with pterygia. Joint contractures are frequently bilateral and severe. Case Report: We report the medical record and radiographic data for 2 siblings with Bruck syndrome type 2—a male (age 6 years) and a female (age 5 years)—born to nonaffected parents. The male has experienced more than 45 fractures, developed severe scoliosis, and has debilitating flexion contractures. The female has minimal flexion contractures, a history of 15 fractures, and severe scoliosis. Conclusion: The dramatic difference between the phenotypes of these 2 cases is significant because it is the largest known variability of phenotypic presentation in siblings. Previous cases of siblings with differing presentations at birth have been reported, but the extent of these differences is not as extreme as in our cases. Because Bruck syndrome presents similarly to osteogenesis imperfecta and could be clinically mistaken for a form of osteogenesis imperfecta if contractures are minimal, a reasonable focus for research efforts is the development of genetic diagnostic protocols for osteogenesis imperfecta with the goal of ruling out Bruck syndrome.