三名颅骨裂隙发育不良患者的病例系列：临床表现和诊断考虑因素。

IF 1.1 4区医学 Q2 Dentistry Cleft Palate-Craniofacial Journal Pub Date : 2024-02-27 DOI:10.1177/10556656241234742

Uğur Berber, Ülkü Gül Şıraz, Mustafa Yakubi, Ebru Gök, Leyla Kara, Aslihan Kiraz, Munis Dündar, Nihal Hatipoglu

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引用次数: 0

摘要

裂颅发育不良（CCD）是一种影响骨骼和牙齿的罕见遗传病。在我们的研究中，我们发现了三例 CCD 病例，其中一例有新的突变，两例有家族史。病例 1 有一个独特的杂合换框突变（NM_001015051,c.762del, p.(Ser256Valfs*2)），而病例 2 和她的兄弟（病例 3）有一个常见的致病性错义突变（NM_001015051,c.674G, p.Arg225Gln），他们的父亲也发现了这种突变。病例 1 中的突变以前从未报道过。有趣的是，与其他病例和之前的报告相比，病例 1 的新突变症状并不严重。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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.

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来源期刊

Cleft Palate-Craniofacial Journal DENTISTRY, ORAL SURGERY & MEDICINE-SURGERY

CiteScore

2.20

自引率

36.40%

发文量

审稿时长

4-8 weeks

期刊介绍： The Cleft Palate-Craniofacial Journal (CPCJ) is the premiere peer-reviewed, interdisciplinary, international journal dedicated to current research on etiology, prevention, diagnosis, and treatment in all areas pertaining to craniofacial anomalies. CPCJ reports on basic science and clinical research aimed at better elucidating the pathogenesis, pathology, and optimal methods of treatment of cleft and craniofacial anomalies. The journal strives to foster communication and cooperation among professionals from all specialties.