Mandibulo-acral dysplasia.

Hoeffel, J C; Mainard, L; Chastagner, P; Hoeffel, C C · Skeletal Radiol · 2000

case_report · Level V

Where this comes from

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.

Medical subject headings

Anatomy