Gömleksiz Cengiz, Arslan Erhan, Arslan Selçuk, Pusat Serhat, Arslan Elif Acar
Department of Neurosurgery, Mengucekgazi Training and Research Hospital, Erzincan University, Erzincan, Turkey.
Department of Neurosurgery, Giresun University, School of Medicine, Mumcular Sok. N: 1/1, Merkez PC: 28100 Giresun, Turkey.
Acta Med Acad. 2014;43(1):92-6. doi: 10.5644/ama2006-124.106.
To describe a rare case of cleidocranial dysplasia, an autosomal dominant inherited disease involving the skeleton and teeth, with delayed diagnosis.
We report a 24-year-old man with cleidocranial dysplasia admitted with hearing loss, rhinolalia, dyspnea and fatigue. Partial absence of clavicles, a bell-shaped ribcage, an open frontal fontanel, unerupted permanent teeth and broad sutures were identified at radiographic examination.
Cleidocranial dysplasia is very rare, and is commonly missed or diagnosed late. Radiographic findings are essential for diagnosis. An open frontal fontanel is a particularly important finding for neurosurgeons in diagnosis. We describe this rare case and discuss the clinical features of CCD.
描述一例罕见的锁骨颅骨发育不全病例，这是一种涉及骨骼和牙齿的常染色体显性遗传病，诊断延迟。
我们报告一名患有锁骨颅骨发育不全的24岁男性，因听力丧失、鼻音、呼吸困难和疲劳入院。影像学检查发现锁骨部分缺如、胸廓呈钟形、前囟未闭、恒牙未萌出以及颅缝增宽。
锁骨颅骨发育不全非常罕见，通常易被漏诊或诊断延迟。影像学检查结果对诊断至关重要。前囟未闭对神经外科医生的诊断来说是一个特别重要的发现。我们描述了这一罕见病例并讨论了锁骨颅骨发育不全的临床特征。
