Citation
Jc. Hoeffel et al., Mandibulo-acral dysplasia, SKELETAL RA, 29(11), 2000, pp. 668-671
Citations number
14
Categorie Soggetti
Radiology ,Nuclear Medicine & Imaging
Journal title
SKELETAL RADIOLOGY
ISSN journal
03642348
→ ACNP
Volume
29
Issue
11
Year of publication
2000
Pages
668 - 671
Database
ISI
SICI code
0364-2348(200011)29:11<668:MD>2.0.ZU;2-D
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 o
n a Hutchinson-Gilford progeria syndrome (HGP). Acro-mandibular dysplasia w
as diagnosed because of facial hypoplasia and mandibular hypoplasia. The bi
lateral proximal mid-humeral notch seen in this case is unusual.