A Case Series of Three Patients with Cleidocranial Dysplasia: Clinical Presentation and Diagnostic Considerations

Berber U., Gül Şiraz Ü., Yakubi M., Gök E., Kara L., Kiraz A., ...More

CLEFT PALATE CRANIOFACIAL JOURNAL, vol.62, no.4, pp.715-719, 2025 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 62 Issue: 4
  • Publication Date: 2025
  • Doi Number: 10.1177/10556656241234742
  • Journal Name: CLEFT PALATE CRANIOFACIAL JOURNAL
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, CINAHL, Educational research abstracts (ERA), EMBASE, Linguistics & Language Behavior Abstracts, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.715-719
  • Keywords: dental anomalies, genetics, pediatrics, syndrome, tooth development, skeletal morphology
  • Erciyes University Affiliated: Yes

Abstract

Cleidocranial dysplasia (CCD) is a rare genetic condition that affects the bones and teeth. In our study, we presented three cases of CCD, including one with a new mutation and two with a family history. Case 1 had a unique heterozygous frameshift mutation (NM_001015051,c.762del, p.(Ser256Valfs*2)), while Case 2 and her brother (Case 3) had a common pathogenic missense mutation (NM_001015051,c.674G, p.Arg225Gln), which was also found in their father. The mutation in Case 1 was not reported before. Interestingly, the symptoms in Case 1, with the new mutation, were less severe than the other cases and the previous reports.