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

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. PMID: 32612477 [PubMed]
Source: Ochsner Journal - Category: General Medicine Tags: Ochsner J Source Type: research