A Cleidocranial Dysplasia Case with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment.

In conclusion hypoplasia or aplasia of the clavicles, failure of cranial suture closure, dental anomalies, and short stature should bring CCD to mind. We present a novel mutation in the RUNX2 gene for CCD. We obtained growth velocity gain with GH treatment in our patient. PMID: 30468148 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research