Kjaer I, Keeling J W, Reintoft I, Nolting D, Fischer Hansen B
Department of Orthodontics, School of Dentistry, University of Copenhagen, Denmark.
Am J Med Genet. 1998 Dec 28;80(5):494-500. doi: 10.1002/(sici)1096-8628(19981228)80:5<494::aid-ajmg11>3.0.co;2-7.
The purpose of the present investigation was to study the sella turcica/pituitary gland region in trisomy 21 fetuses and to relate the findings in the region to the ossification pattern in the axial skeleton formed by the cranial base and spine. Material from 22 human fetuses with trisomy 21, CRL 80 mm to CRL 190 mm, corresponding to gestational ages from 14 to 21 weeks, was examined and compared with material from gestation-matched normal controls. After radiography, tissue blocks from the cranial base, including the pituitary gland, were examined and compared with those of normal fetuses. Four different types of sella turcica/ pituitary gland morphology were observed. Thirteen fetuses (Type I) were morphologically normal. Minor abnormalities occurred in the sella turcica and pituitary gland (adenopituitary gland tissue pharyngeally) in six fetuses (Types II and III). There was agreement between the histologically recorded deviations in the sella turcica and the radiographic observations of the basisphenoid bone. In three cases (Type IV) out of 22, more pronounced structural abnormalities occurred in the sella turcica, and radiographically the basisphenoid bone appeared cleft. All sella turcica changes observed in trisomy 21 were situated anteriorly in the base of the sella. In all cases the basilar part of the occipital bone was normal. Minor changes in the sella turcica region were mainly accompanied by cervical vertebral abnormalities, while the most severe abnormalities occurred in association with malformations in the lumbar vertebrae. There was no association between sella turcica malformations and the absence or presence of the nasal bone.
本研究的目的是研究21三体胎儿的蝶鞍/垂体区域,并将该区域的研究结果与由颅底和脊柱形成的轴向骨骼的骨化模式相关联。对22例CRL为80mm至190mm(相当于孕龄14至21周)的21三体人类胎儿的材料进行了检查,并与孕周匹配的正常对照材料进行了比较。在进行放射摄影后,对包括垂体在内的颅底组织块进行了检查,并与正常胎儿的组织块进行了比较。观察到四种不同类型的蝶鞍/垂体形态。13例胎儿(I型)形态正常。6例胎儿(II型和III型)的蝶鞍和垂体出现轻微异常(腺垂体组织咽部)。蝶鞍组织学记录的偏差与蝶骨基底部的放射学观察结果一致。在22例中的3例(IV型)中,蝶鞍出现更明显的结构异常,放射学上蝶骨基底部出现裂隙。在21三体中观察到的所有蝶鞍变化均位于蝶鞍底部的前部。在所有病例中,枕骨基底部均正常。蝶鞍区域的轻微变化主要伴有颈椎异常,而最严重的异常与腰椎畸形有关。蝶鞍畸形与鼻骨的有无之间没有关联。