Neonatal Medicine

  • 제27권4호
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  • Pages.192-196
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  • 2020
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  • 2287-9412(pISSN)
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  • 2287-9803(eISSN)
대한신생아학회 (The Korean Society of Neonatology)
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Sporadic Cleidocranial Dysplasia in a Newborn: A 4-Year Follow-up Study

  • Kim, Jin Ho (Department of Pediatrics, Jeonbuk National University Hospital) ;
  • Kim, Sun Jun (Department of Pediatrics, Jeonbuk National University Hospital) ;
  • Kim, Hyun Ho (Department of Pediatrics, Jeonbuk National University Hospital) ;
  • Kim, Jin Kyu (Department of Pediatrics, Jeonbuk National University Hospital)
  • 투고 : 2020.07.23
  • 심사 : 2020.09.25
  • 발행 : 2020.11.30
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초록

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplastic disease associated with mutations in the gene encoding the Runt-related transcription factor 2 (RUNX2). CCD is characterized by hypoplastic clavicles and patent cranial sutures. Management is essential to prevent complications during growth of the patient. Herein, we report a sporadic case of an infant with hypoplastic skull and clavicles at birth, which correlated with clinical findings of CCD. A heterozygous mutation was identified in the RUNX2 gene, which confirmed the diagnosis of CCD.

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참고문헌

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