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Case Report
Online Published: 26 Dec 2019
 


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

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

Web Style

Kutilek S, Machytka R, Munzar P. Cleidocranial dysplasia. https://sudanjp.com//?mno=30525 [Access: June 28, 2026]. doi:10.24911/SJP.106-1549652213

AMA (American Medical Association) Style

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


Vancouver/ICMJE Style

Kutilek S, Machytka R, Munzar P. Cleidocranial dysplasia. Sudan J Paed. (2019), [cited June 28, 2026]; 19(2): 165-168. doi:10.24911/SJP.106-1549652213


Harvard Style

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


Turabian Style

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


Chicago Style

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


MLA (The Modern Language Association) Style

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


APA (American Psychological Association) Style

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




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