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Cleidocranial dysplasia
S. Kutilek, R. Machytka, P. Munzar,
Sudanese journal of paediatrics.
2019 ;
19 (2) :
165-168.
[pub] -
Jazyk angličtina Země Súdán
Typ dokumentu kazuistiky
Perzistentní odkaz
https://www.medvik.cz/link/bmc20005325
- Publikační typ
- kazuistiky MeSH
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.
Citace poskytuje Crossref.org
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