Mandibulo-acral dysplasia

被引:7
作者
Hoeffel, JC
Mainard, L
Chastagner, P
Hoeffel, CC
机构
[1] Childrens Hosp, Dept Radiol, F-54511 Vandoeuvre Nancy, France
[2] Childrens Hosp, Dept Med, F-54511 Vandoeuvre Nancy, France
[3] UFR Fac Med Cochin, F-75014 Paris, France
关键词
Hutchinson-Gilford progeria syndrome scleroderma; mandibular acral dysplasia; radiographs;
D O I
10.1007/s002560000280
中图分类号
R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学(修复外科学)];
学科分类号
摘要
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.
引用
收藏
页码:668 / 671
页数:4
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