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Atelosteogenesis type III: A case report

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Abstract

We present a case of rhizomelic dwarfism with clinical, radiographic and histologic features in keeping with atelosteogenesis type III (spondylohumerofemoral hypoplasia). Unlike most other skeletal chondrodysplasias presenting with neonatal dwarfism, a proportion of patients with atelosteogenesis type III may survive well beyond the neonatal period, and hence early identification of the condition is important. Our surviving patient further defines the radiographic features of the condition and the natural history and prognosis for physical and intellectual disability.

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References

  1. Kozlowski K, Tsuruta T, Kameda A, Kan A, Leslie G (1981) New forms of neonatal death dwarfism (report of three cases). Pediatr Radiol 10: 155–160

    Article  PubMed  Google Scholar 

  2. Sillence D, Lachman R, Jenkins T, Riccardi V, Rimoin D (1982) Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limb skeletal dysplasia. Am J Med Genet 13: 7–14

    Article  PubMed  Google Scholar 

  3. Maroteaux P, Spranger J, Stanescu V, LeMarec B, Pfeiffer RA, Beighton P, Mattei JF (1982) Atelosteogenesis. Am J Med Genet 13: 15–25

    Article  PubMed  Google Scholar 

  4. Stern H, Graham J, Lachman R, Horton W, Bernini P, Spiegel P, Bodurtha J, Ives E, Bocian M, Rimoin D (1990) Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oro-palato-digital syndrome type II. Am J Med Genet 36: 183–195

    Article  PubMed  Google Scholar 

  5. Sillence D, Kozlowski K, Rogers J, Sprauge P, Cullity G, Osborn R (1987) Atelosteogenesis: evidence of heterogeneity. Pediatr Radiol 17: 112–118

    PubMed  Google Scholar 

  6. Whitley C, Burke B, Granroth G, Gorlin R (1986) De la Chapelle dysplasia. Am J Med Genet 25: 29–39

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Radiology Department, Princess Margaret Hospital for Children, Perth, Australia

    M. J. Fallon

  2. Department of Medical Genetics, Princess Margaret Hospital for Children, Perth, Australia

    A. Hockey

  3. Department of Anatomical Pathology, Princess Margaret Hospital for Children, Perth, Australia

    L. A. Hallam

Authors
  1. M. J. Fallon
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  2. A. Hockey
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  3. L. A. Hallam
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Fallon, M.J., Hockey, A. & Hallam, L.A. Atelosteogenesis type III: A case report. Pediatr Radiol 24, 47–49 (1994). https://doi.org/10.1007/BF02017661

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  • DOI: https://doi.org/10.1007/BF02017661

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