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PubMed · 11201039

Mandibulo-acral dysplasia.

J C Hoeffel·L Mainard·P Chastagner·C C Hoeffel
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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.

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Abnormalities, MultipleBone Diseases, DevelopmentalBone and BonesChildChromosome AberrationsChromosome DisordersClavicleCraniofacial AbnormalitiesFemaleGenes, RecessiveHumansMandibleMicrognathismRadiographySyndromeCase ReportsJournal Article

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BibTeXRIS

J C Hoeffel, L Mainard, P Chastagner, C C Hoeffel. 2000. Mandibulo-acral dysplasia.. https://doi.org/10.1007/s002560000280

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