蝶鞍在 velocardiofacial 综合征中的形态学表现提示其涉及神经嵴发育区。
The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field.
机构信息
Copenhagen Cleft Palate Centre, University Hospital of Copenhagen, Hellerup, Denmark.
出版信息
Am J Med Genet A. 2010 Jun;152A(6):1450-7. doi: 10.1002/ajmg.a.33381.
We described the morphology of the sella turcica in individuals with velocardiofacial syndrome (VCFS), also known as chromosome 22q11.2 deletion syndrome, and compared the morphology with that of a control group of individuals from the Oslo University Craniofacial Growth Archive. The aim was to measure the cranial base angles in individuals with VCFS and, if possible, to discover the developmental field that may be involved in the condition. The study included 33 patients with VCFS from the Copenhagen Cleft Palate Center, Denmark. The genotype was confirmed by fluorescence in situ hybridization. The morphology of the sella turcica was described and measurements of the cranial base angles were performed on lateral cephalometric radiographs. The VCFS individuals had larger deviations in the morphology of the sella turcica compared to individuals from the Oslo University Craniofacial Growth archive. The deviations were mostly in the posterior part of the dorsum sellae. Individuals with VCFS had increased cranial base angles. The results of this study combined with the information in the literature on the main defects in VCFS (palatal abnormalities, cardiac anomalies, thymic hypoplasia or aplasia, hypothyroidism, and posterior brain abnormality), suggest involvement of a specific developmental field.
我们描述了 velocardiofacial 综合征(VCFS)患者蝶鞍的形态,也称为 22q11.2 号染色体缺失综合征,并将其与来自奥斯陆大学颅面生长档案的对照组进行了比较。目的是测量 VCFS 患者的颅底角度,并尽可能发现可能涉及该疾病的发育区域。该研究包括来自丹麦哥本哈根腭裂中心的 33 名 VCFS 患者。通过荧光原位杂交证实了基因型。描述了蝶鞍的形态,并在侧位头颅侧位片上测量了颅底角度。与来自奥斯陆大学颅面生长档案的个体相比,VCFS 个体的蝶鞍形态偏差更大。偏差主要在后鞍背的后部。VCFS 患者的颅底角度增加。本研究的结果结合 VCFS 的主要缺陷(腭部异常、心脏异常、胸腺发育不全或发育不全、甲状腺功能减退和后脑异常)的文献信息,提示涉及特定的发育区域。