Craniometaphyseal dysplasia

Acta Otolaryngol. 2005 Jul;125(7):797-800. doi: 10.1080/00016480510028474.

Abstract

Craniometaphyseal dysplasia is a rare bone disorder of unknown etiology characterized by overgrowth of the skull base or craniofacial bones and abnormal remodeling of the metaphyses of the long bones. We present a sporadic case of craniometaphyseal dysplasia associated with facial paralysis observed in a 4-year-old female, which emphasizes the importance of the early detection of accompanying lesions.

Publication types

  • Case Reports

MeSH terms

  • Bone Diseases, Developmental / complications
  • Bone Diseases, Developmental / diagnosis*
  • Bone Diseases, Developmental / genetics
  • Bone Remodeling / genetics
  • Child, Preschool
  • Facial Bones / pathology*
  • Facial Paralysis / etiology
  • Female
  • Femur / diagnostic imaging
  • Femur / pathology*
  • Humans
  • Hyperostosis / complications
  • Hyperostosis / diagnosis*
  • Hypertelorism / etiology
  • Magnetic Resonance Imaging
  • Skull / diagnostic imaging
  • Skull / pathology*
  • Tomography, X-Ray Computed