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 language | English |
---|---|
Article number | 215162 |
Journal | BMJ Case Reports |
Volume | 2016 |
DOIs | |
Publication status | Published - 13-05-2016 |
All Science Journal Classification (ASJC) codes
- Medicine(all)