Karagüzel Gülay, Aktürk Filiz Azar, Okur Emelgül, Gümele Halit Reşit, Gedik Yusuf, Okten Ayşenur
Karadeniz Technical University, School of Medicine, Department of Pediatric Endocrinology, Trabzon, Türkiye.
J Clin Res Pediatr Endocrinol. 2010;2(3):134-6. doi: 10.4274/jcrpe.v2i3.134. Epub 2010 Aug 9.
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease. CCD is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e. runt-related transcription factor 2(RUNX2). The disease is characterized by a persistently open anterior fontanelle and skull sutures, hypoplastic or aplastic clavicles, dental abnormalities, short stature, a wide pubic symphysis, and a variety of other skeletal changes. A major finding of CCD is hypoplasia or aplasia of clavicular bones resulting in the ability of the patient to approximate the shoulders. Delayed closure of the anterior fontanelle and of metopic sutures causes frontal bossing. We report a case of CCD in a 3.5-year-old boy who referred to our clinic because of an unclosed anterior fontanelle and emphasize the importance of clinical findings in CCD.
锁骨颅骨发育不全（CCD）是一种罕见的常染色体显性遗传性骨骼疾病。CCD是由位于6p21上编码转录因子CBFA1（即 runt相关转录因子2，RUNX2）的基因突变引起的。该疾病的特征是前囟门和颅骨缝持续开放、锁骨发育不全或缺失、牙齿异常、身材矮小、耻骨联合增宽以及其他各种骨骼变化。CCD的一个主要表现是锁骨发育不全或缺失，导致患者能够使双肩靠近。前囟门和额缝闭合延迟会导致前额突出。我们报告了一名3.5岁男孩因前囟门未闭合转诊至我们诊所的CCD病例，并强调了CCD临床症状的重要性。
