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

BERBER U., GÜL ŞİRAZ Ü., YAKUBİ M., GÖK E., KARA L., KİRAZ A., ...Daha Fazla

CLEFT PALATE CRANIOFACIAL JOURNAL, 2024 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2024
  • Doi Numarası: 10.1177/10556656241234742
  • Dergi Adı: CLEFT PALATE CRANIOFACIAL JOURNAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, CINAHL, Educational research abstracts (ERA), EMBASE, Linguistics & Language Behavior Abstracts, MEDLINE, Veterinary Science Database
  • Erciyes Üniversitesi Adresli: Evet

Özet

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.