Sporadic Cleidocranial Dysplasia in a Newborn: A 4-Year Follow-up Study
- Author:
Jin Ho KIM
1
;
Sun Jun KIM
;
Hyun Ho KIM
;
Jin Kyu KIM
Author Information
- Publication Type:Case Report
- From:Neonatal Medicine 2020;27(4):192-196
- CountryRepublic of Korea
- Language:English
- Abstract: 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.
