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Mandibulo-acral dysplasia
J C Hoeffel1, L Mainard, P Chastagner
1Department of Radiology, Children's Hospital, Vandoeuvre, France.
Skeletal Radiology
|February 24, 2001
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.