Correct!
5.All the above.
Early diagnosis is important and an evaluation for osteogenesis imperfecta be considered for people presenting with short stature, minimal trauma fractures and short, long bones. Genomic testing confirms the genetic diagnosis but a normal genetic test does not exclude a clinical diagnosis of osteogenesis imperfecta.
References
- McCarthy EF. Genetic diseases of bones and joints. Semin Diagn Pathol. 2011 Feb;28(1):26-36. [CrossRef] [PubMed]
- Etich J, Leßmeier L, Rehberg M, Sill H, Zaucke F, Netzer C, Semler O. Osteogenesis imperfecta-pathophysiology and therapeutic options. Mol Cell Pediatr. 2020 Aug 14;7(1):9. [CrossRef] [PubMed]
- Subramanian S, Anastasopoulou C, Viswanathan VK. Osteogenesis Imperfecta. 2023 Feb 6. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan–. [PubMed]
- Forlino A, Marini JC. Osteogenesis imperfecta. Lancet. 2016 Apr 16;387(10028):1657-71. [CrossRef] [PubMed]
- Rothschild L, Goeller JK, Voronov P, Barabanova A, Smith P. Anesthesia in children with osteogenesis imperfecta: Retrospective chart review of 83 patients and 205 anesthetics over 7 years. Paediatr Anaesth. 2018 Nov;28(11):1050-1058. [CrossRef] [PubMed]
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