Mandibulo-acral dysplasia

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

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics
  • Bone Diseases, Developmental / diagnostic imaging*
  • Bone Diseases, Developmental / genetics
  • Bone and Bones / diagnostic imaging
  • Child
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Clavicle / abnormalities*
  • Clavicle / diagnostic imaging
  • Craniofacial Abnormalities / diagnostic imaging*
  • Craniofacial Abnormalities / genetics
  • Female
  • Genes, Recessive / genetics
  • Humans
  • Mandible / abnormalities*
  • Mandible / diagnostic imaging
  • Micrognathism / diagnostic imaging*
  • Micrognathism / genetics
  • Radiography
  • Syndrome