Expanding the Clinical Spectrum of Bruck Syndrome: A Case Report and Literature Review

Background Bruck syndrome is a rare autosomal recessive disorder characterized by osteogenesis imperfecta–like bone fragility and congenital joint contractures. Clinical overlap with other connective tissue disorders makes early diagnosis challenging, and genetic testing remains essential. Case Presentation We describe an 18‐month‐old female with a homozygous PLOD2 pathogenic variant confirming Bruck syndrome Type 2. She presented at 5 weeks with congenital joint contractures and right developmental dysplasia of the hip. Her course included successful surgical correction of hip dislocation and improvement in limb function with physiotherapy, allowing independent ambulation. Family segregation analysis identified both parents as carriers, enabling accurate recurrence‐risk counseling. Conclusion Early genetic confirmation and coordinated multidisciplinary care support better functional outcomes in Bruck syndrome. Additional case reporting is needed to strengthen the understanding of phenotype variability and guide management.