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

Cleft Palate Craniofac J. 2024 Feb 27:10556656241234742. doi: 10.1177/10556656241234742. Online ahead of print.ABSTRACTCleidocranial 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.PMID:38414358 | DOI:10.1177/10556656241234742

Source: The Cleft Palate-Craniofacial Journal - February 28, 2024 Category: ENT & OMF Authors: U ğur Berber Ülkü Gül Şıraz Mustafa Yakubi Ebru G ök Leyla Kara Aslihan Kiraz Munis D ündar Nihal Hatipoglu Source Type: research