Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2

Malavika Hebbar, Katta M. Girisha, Anju Shukla

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1 Citation (Scopus)

Abstract

Cleidocranial dysplasia (CCD) is a rare genetic disorder of bone, characterised by hypoplastic/aplastic clavicles, delayed closure of fontanelles and sutures of the cranium and dental abnormalities. We describe a novel frameshift pathogenic variation-c.470dupT ( p.M157Ifs∗4, NM-001024630) in the runt-related transcription factor 2 (RUNX2) gene-that adds to the spectrum of mutations in this gene. The current case also illustrates the clinical and radiological findings in an adult with CCD.

Original languageEnglish
Article number215162
JournalBMJ Case Reports
Volume2016
DOIs
Publication statusPublished - 13-05-2016

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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