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Cleidocranial dysplasia.


ABSTRACT: 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 CBFA1 (runt-related transcription factor 2-RUNX2). The girl remains under close surveilance, her anterior fontanelle closed spontaneously at the age of 9 years.

SUBMITTER: Kutilek S 

PROVIDER: S-EPMC6962259 | BioStudies | 2019-01-01

SECONDARY ACCESSION(S): 119600

REPOSITORIES: biostudies

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