下颌-肢端发育不良

Mandibulo-acral dysplasia.

作者信息

Hoeffel J C, Mainard L, Chastagner P, Hoeffel C C

机构信息

Department of Radiology, Children's Hospital, Vandoeuvre, France.

出版信息

Skeletal Radiol. 2000 Nov;29(11):668-71. doi: 10.1007/s002560000280.

DOI:10.1007/s002560000280

PMID:11201039

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.

摘要

我们报告了一名患有下颌肢端发育不良的7岁女孩。她3岁时，因皮肤萎缩被误诊为硬皮病，后来又被误诊为早老症（Hutchinson-Gilford早衰综合征，HGP）。由于面部发育不全和下颌发育不全，最终诊断为肢端下颌发育不良。该病例中出现的双侧肱骨近端中部切迹并不常见。