Ontology highlight
ABSTRACT:
SUBMITTER: Kutilek S
PROVIDER: S-EPMC6962259 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Sudanese journal of paediatrics 20190101 2
We present a 4-year-old girl with persistent anterior fontanelle and narrow sloping shoulders. The X-ray imaging revealed widely open anterior fontanelle, supernumerary teeth, and absence of clavicles. Therefore, the diagnosis was cleidocranial dysplasia, which is a rare autosomal dominant skeletal disease, caused by the mutation in the gene on 6p21 encoding transcription factor <i>CBFA1</i> (runt-related transcription factor 2-<i>RUNX2</i>). The girl remains under close surveilance, her anterio ...[more]