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 (runtrelated transcription factor 2RUNX2). The girl remains under close surveilance, her anterior fontanelle closed spontaneously at the age of 9 years.
Key words: Clavicle; Skull; Fontanelle; Ossification; Cleidocranial dysplasia.
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