A Case Series of Three Patients with Cleidocranial Dysplasia: Clinical Presentation and Diagnostic Considerations
CLEFT PALATE CRANIOFACIAL JOURNAL, cilt.62, sa.4, ss.715-719, 2025 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 62 Sayı: 4
- Basım Tarihi: 2025
- 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
- Sayfa Sayıları: ss.715-719
- Anahtar Kelimeler: dental anomalies, genetics, pediatrics, syndrome, tooth development, skeletal morphology
- 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.