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Evaluation of newborns with skeletal dysplasias

Abstract

Skeletal dysplasia are a relatively common and distinct group of genetic disorders. Even though abnormalities of bone growth are the major clinical manifestations, the pathological process may involve in any body system. Many of these disorders have dire consequences such as neonatal death and most will have life-long physical and psychosocial morbidity associated with them. Recent advances in genetic research have identified the genes underlying the primary defects in several common skeletal dysplasias such as achondroplasia and diastrophic dysplasia. While these advances are clearly important in developing better therapy and a cure for those conditions, the role of the pediatrician as the diagnostician has remained unchanged. In this article we describe how a systematic approach using the simplest of tools-clinical assessment and radiograph-can arrive at a diagnosis in most instances of newborns with skeletal dysplasias. The key features that are essential for establishing a diagnosis for most of the entities encountered in the newborn are described along with our general approach to the evaluation of the radiographs.

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References

  1. Macpherson RI. Skeletal dysplasias. In: Reed MH, edPediatric Skeletal Radiology. Baltimore; Williams and Wilkins, 1992.

    Google Scholar 

  2. Spranger JW, Langer LO, Wiedemann HR.Bone dysplasias: An Atlas of Constitutional Disorders of Skeletal Development. Philadelphia; WB Saunders, 1974.

    Google Scholar 

  3. Spranger J, Cremin B, Beighton P. Osteogenesis imperfecta congenita: Features and prognosis of a heterogenous condition.Pediatr Radiol 1982; 12: 21–27.

    PubMed  Article  CAS  Google Scholar 

  4. Macpherson RI, Kroeker M, Houston CS.Hypophosphatasia.Can Assoc Radio J 1972; 23:16–26.

    CAS  Google Scholar 

  5. Whitley CB, Gorlin RJ. Achondrogenesis: new nosology with evidence of genetic heterogeneity.Radiology 1983; 148:693–693.

    PubMed  CAS  Google Scholar 

  6. Graham CB, Rudhe U, Eklof O. Osteopetrosis. In: Kaufmann HD, ed.Intrinsic Diseases of Bones. Vol 4. Basel: Karger 1973 : 375–402.

    Google Scholar 

  7. Langer LO, Baumann PA, Gorlin RJ. Achondroplasia: Clinical and radiologic features with comment on genetic implications.Clin Pediatr 1968; 7:474–485.

    Google Scholar 

  8. Langer LO,et al. Thanatophoric dysplasia and cloverleaf skull.Am J Med Genet 1987; 3:167–179.

    Article  Google Scholar 

  9. Langer LO. Diastrophic dwarfism in early infancyAm J Roentgenol 1965; 93: 399.

    Google Scholar 

  10. Macpherson RI, Skinner SA, Donnenfield AE. Acampomelic Campomelic dysplasia.Pediatr Radiol 1989; 20:90–93.

    PubMed  Article  CAS  Google Scholar 

  11. Macpherson RI, Wood B.P. Spondyloepiphyseal dysplasia congenita: a cause of lethal neonatal dwarfism.Pediatr Radiol 1980; 9:217–224.

    PubMed  Article  CAS  Google Scholar 

  12. Maroteaux P, Stanescu V, Stanescu R. Hypochondrogenesis.Eur J Pediatr 1983; 141:14–22.

    PubMed  Article  CAS  Google Scholar 

  13. Spranger JW, Opitz JM, Bidder V Heterogeniety of chondrodysplasia punctata.Humangenetik 1971; 11:190–212.

    PubMed  Article  CAS  Google Scholar 

  14. Tan KL, Tan LKA. Cleidocranial dysotosis in infancy.Pediatr Radiol 1981; 11:114–116

    PubMed  Article  CAS  Google Scholar 

  15. Oberklaiad F, Danks DM, Mayne Vet al. Asphyxiating thoracic dystrophyrradiologic and pathologic information on 10 patients.Arch Dis Child 1977; 52: 758–765.

    Article  Google Scholar 

  16. DeSilva EO, Janovitz D, Cavalcanti de Albuquerque S. Ellis-van Creveld syndrome: report on 15 cases in an inbred kindred.J Med Genent 1980; 17: 349–356.

    Google Scholar 

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Macpherson, R.I., Pai, G.S. Evaluation of newborns with skeletal dysplasias. Indian J Pediatr 67, 907–913 (2000). https://doi.org/10.1007/BF02723957

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  • DOI: https://doi.org/10.1007/BF02723957

Key Words

  • Skeletal dysplasia
  • Dwarfism
  • Chondrodysplasia