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Rarefying Osteopathies

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Prenatal Diagnosis of Fetal Osteopathologies

Abstract

Osteopenia is characterized by reduced bone production or increased bone resorption. This group includes the various forms of osteogenesis imperfecta that can be recognized by prenatal diagnosis. Type 2 presents reduced cranial ossification associated with bone fractures while the other types can be suspected if a “curved” femur or other long bone is observed. The differential diagnosis must be made with early hypophosphatasia, which is a phosphorus-calcium dysmetabolism characterized by reduced generalized ossification.

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References

  1. Golshani KR, Ludwig MR, Cohn PL, Del Kruse R. Osteogenesis imperfecta. Med J. 2016;88(6):178–85.

    Google Scholar 

  2. Baljet B. Aspects of the history of osteogenesis imperfecta (Vrolik’s syndrome). Ann Anat. 2002;184(1):1–7.

    Article  CAS  PubMed  Google Scholar 

  3. Pierangeli CE, Bernabei L. Fragilitas ossium hereditaria tarda or Ekman-Lobstein syndrome and its otologic manifestations. Boll Mal Orecch Throat Nose. 1962;80:355–413.

    CAS  Google Scholar 

  4. Imerci A, Canbek U, Haghari S, Sürer L, Kocak M. Idiopathic juvenile osteoporosis: a case report and review of the literature. Int J Surg Case Rep. 2015;9:127–9.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Papadopoulos I, Bountouvi E, Attilakos A, Gole E, Dinopoulos A, Peppa M, Nikolaidou P, Papadopoulou A. Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece. Eur J Pediatr. 2019;178(3):323–9.

    Article  CAS  PubMed  Google Scholar 

  6. Castells L, Cassanello P, Muñiz F, de Castro MJ, Couce ML. Neonatal lethal hypophosphatasia: a case report and review of literature. Medicine (Baltimore). 2018;97(48):e13269.

    Article  PubMed  Google Scholar 

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Correspondence to Aniello Di Meglio .

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Di Meglio, A., Manzo, L. (2024). Rarefying Osteopathies. In: Di Meglio, A. (eds) Prenatal Diagnosis of Fetal Osteopathologies. Springer, Cham. https://doi.org/10.1007/978-3-031-39347-1_19

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  • DOI: https://doi.org/10.1007/978-3-031-39347-1_19

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-031-39346-4

  • Online ISBN: 978-3-031-39347-1

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