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Mandibulo-acral dysplasia

  • Case Report
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Skeletal Radiology Aims and scope Submit manuscript

Abstract 

We report on a 7 year-old-girl with mandibulo-acral dysplasia. When she was 3 years of age it mimicked scleroderma because of skin atrophy and later on a Hutchinson-Gilford progeria syndrome (HGP). Acro-mandibular dysplasia was diagnosed because of facial hypoplasia and mandibular hypoplasia. The bilateral proximal mid-humeral notch seen in this case is unusual.

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Authors and Affiliations

  1. Department of Radiology, Children’s Hospital, Rue du Morvan, 54511 Vandoeuvre Cedex, France, , , , , , FR

    J.-C. Hoeffel & Laurence Mainard

  2. Department of Medicine, Children’s Hospital, Rue du Morvan, 54511 Vandoeuvre Cedex, France, , , , , , FR

    Pascal Chastagner

  3. UFR Faculté de Médecine Cochin, 27, rue du Fg St-Jacques, 75014 Paris, France, , , , , , FR

    Christine Caroline Hoeffel

Authors
  1. J.-C. Hoeffel
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  2. Laurence Mainard
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  3. Pascal Chastagner
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  4. Christine Caroline Hoeffel
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Additional information

Received: 22 June 2000 Revision requested: 10 July 2000 Revision received: 7 August 2000 Accepted: 10 August 2000

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Hoeffel, JC., Mainard, L., Chastagner, P. et al. Mandibulo-acral dysplasia. Skeletal Radiol 29, 668–671 (2000). https://doi.org/10.1007/s002560000280

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  • DOI: https://doi.org/10.1007/s002560000280

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