我们介绍了迄今为止最大的病例系列,这些病例是关于CHARGE综合征(眼部结肠瘤,心脏缺陷,钩虫的闭锁,生长和/或发育迟缓,生殖器和/或泌尿异常,和耳朵异常和/或耳聋)。我们的目的是证明基底枕骨异常很常见,可能有助于诊断。我们进一步探索是否clivus大小与色域-解旋酶-DNA结合蛋白7基因(CHD7)突变的类型相关,导致CHARGE综合征,根据Blake等人和Verloes的临床标准。
我们回顾性分析了23例CHD7突变CHARGE综合征患者的磁共振成像或CT表现。我们记录了悬崖的大小,Welcher的角度,基底内陷,和ChiariI畸形.我们比较了CHARGE综合征患者与72名年龄匹配的对照组的斜坡大小和Welcher角度。此外,我们测试了斜坡大小与突变类型或临床标准之间的相关性.
87%的CHARGE综合征患者有异常的斜坡;61%的斜坡比年龄匹配的对照组小2.5SD。在35%中观察到异常大的Welcher角度。70%的病人发现了基底细胞发育不全,和基底内陷,29%。没有患者有ChiariI畸形。在集团层面,CHARGE综合征患者的斜坡较对照组小,韦尔彻角度较大.未发现导管大小与突变类型或临床标准之间存在显着相关性。
大多数CHARGE综合征患者有异常的斜坡。这表明斜坡异常可以用作额外的诊断工具。我们的结果提供了CHD7的证据,CHD7在躯体发生过程中在前胚层中表达,在高潮的形成中起着重要的作用。
We present the largest case series to date on basiocciput abnormalities in CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and/or deafness). We aimed to show that basiocciput abnormalities are common and may aid in diagnosis. We furthermore explored whether clivus size correlates with the type of chromodomain-helicase-DNA binding protein 7 gene (CHD7) mutation, which causes CHARGE syndrome, and with clinical criteria according to Blake et al and Verloes.
We retrospectively analyzed the clivus of 23 patients with CHARGE syndrome with CHD7 mutations on MR imaging or CT. We recorded the size of the clivus, the Welcher angle, basilar invagination, and Chiari I malformations. We compared the clival size and Welcher angle of patients with CHARGE syndrome with those of 72 age-matched controls. Additionally, we tested for correlations between clivus size and mutation type or clinical criteria.
Eighty-seven percent of the patients with CHARGE syndrome had an abnormal clivus; 61% had a clivus >2.5 SD smaller than that of age-matched controls. An abnormally large Welcher angle was observed in 35%. Basiocciput hypoplasia was found in 70%, and basilar invagination, in 29%. None of the patients had a Chiari I malformation. At the group level, patients with CHARGE syndrome had a smaller clivus and larger Welcher angle than controls. No significant correlation between clivus size and mutation type or clinical criteria was found.
Most patients with CHARGE syndrome have an abnormal clivus. This suggests that clivus abnormalities may be used as an additional diagnostic tool. Our results provide evidence that CHD7, which is expressed in the presomitic mesoderm during somitogenesis, plays an important role in the formation of the clivus.