E-ISSN 1858-8360 | ISSN 0256-4408
 

Case Report 


Cleidocranial dysplasia

Stepan Kutilek , Roman Machytka , Petr Munzar.

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 (runtrelated transcription factor 2—RUNX2). 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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How to Cite this Article
Pubmed Style

SK, RM, Munzar P, . Cleidocranial dysplasia. Sudan J Paed. 2019; 19(2): 165-168. doi:10.24911/SJP.106-1549652213


Web Style

SK, RM, Munzar P, . Cleidocranial dysplasia. http://www.sudanjp.com/?mno=30525 [Access: January 19, 2020]. doi:10.24911/SJP.106-1549652213


AMA (American Medical Association) Style

SK, RM, Munzar P, . Cleidocranial dysplasia. Sudan J Paed. 2019; 19(2): 165-168. doi:10.24911/SJP.106-1549652213



Vancouver/ICMJE Style

SK, RM, Munzar P, . Cleidocranial dysplasia. Sudan J Paed. (2019), [cited January 19, 2020]; 19(2): 165-168. doi:10.24911/SJP.106-1549652213



Harvard Style

, S. K. ., , R. M. ., Munzar, P. & (2019) Cleidocranial dysplasia. Sudan J Paed, 19 (2), 165-168. doi:10.24911/SJP.106-1549652213



Turabian Style

, Stepan Kutilek , Roman Machytka, Petr Munzar, and . 2019. Cleidocranial dysplasia. Sudanese Journal of Paediatrics, 19 (2), 165-168. doi:10.24911/SJP.106-1549652213



Chicago Style

, Stepan Kutilek , Roman Machytka, Petr Munzar, and . "Cleidocranial dysplasia." Sudanese Journal of Paediatrics 19 (2019), 165-168. doi:10.24911/SJP.106-1549652213



MLA (The Modern Language Association) Style

, Stepan Kutilek , Roman Machytka, Petr Munzar, and . "Cleidocranial dysplasia." Sudanese Journal of Paediatrics 19.2 (2019), 165-168. Print. doi:10.24911/SJP.106-1549652213



APA (American Psychological Association) Style

, S. K. ., , R. M. ., Munzar, P. & (2019) Cleidocranial dysplasia. Sudanese Journal of Paediatrics, 19 (2), 165-168. doi:10.24911/SJP.106-1549652213





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