Craniometaphyseal dysplasia in a 14-month old: a case report and review of imaging differential diagnosis

Sumit Singh, Curtis Qin, Srikanth Medarametla, Shilpa V. Hegde

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

We report a 14-month-old male with craniometaphyseal dysplasia (CMD). The patient presented with a history of diminishing vision and hearing loss. Cranial computed tomography scan showed diffuse calvarial and skull base hyperostosis with excessive bone narrowing the internal auditory canals and skull base foramina. A subsequent skeletal survey revealed other skeletal abnormalities, which led to the diagnosis of CMD. This was later confirmed by ANKH mutation. CMD is a rare genetic disorder that belongs to the group of craniotubular bone dysplasias. It is important to recognize this condition from other causes of craniotubular bone dysplasias to institute early treatment and explain prognosis.

Original languageEnglish (US)
Pages (from-to)260-265
Number of pages6
JournalRadiology Case Reports
Volume11
Issue number3
DOIs
StatePublished - Sep 1 2016
Externally publishedYes

Keywords

  • ANKH gene mutation
  • craniometaphyseal dysplasia
  • craniotubular dysplasia
  • Erlenmeyer flask deformity

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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