Kjaer I, Keeling J W, Fischer Hansen B
Department of Orthodontics, School of Dentistry, University of Copenhagen, Denmark.
Am J Med Genet. 1997 Jun 27;70(4):421-6. doi: 10.1002/(sici)1096-8628(19970627)70:4<421::aid-ajmg17>3.0.co;2-j.
The purpose of this study was to analyse the development of the axial skeleton in human trisomy 13 fetuses and to define which fields in the axial skeleton are affected in this condition. We investigated nine human fetuses with trisomy 13 and gestational ages of 14-19 weeks. Whole body radiographs and radiographs of midsagittal tissue blocks of the cranial base and the spine were studied. In the youngest fetus, 14 w GA, no malformations were observed. In eight fetuses, 17-19 weeks GA, malformations occurred in the lumbosacral spine. In four fetuses additional malformations were observed in the thoracic spine. The study showed that there was a correspondence between the extent of malformation in the lumbosacral spine and the thoracic spine. When mild malformation occurred in the lumbosacral region, no malformation was observed in the thoracic region, whereas malformation was observed in the thoracic region when there was extensive malformation in the lumbosacral region. Malformations did not occur in the cervical spine or the basilar part of the occipital bone, but the postsphenoidal part of the sphenoid bone was small and irregular in the six cases where it could be examined. In seven fetuses there was malformation or agenesis of the nasal bone. This pattern of axial skeletal malformations in trisomy 13 fetuses was not described previously. Comparisons are made with previous studies of the fetal axial skeleton in trisomy 18 and trisomy 21, where the pattern of malformations was different. We reiterate our recommendation that axial skeletal radiography should be part of the postmortem examination of fetuses with suspected or verified chromosome abnormalities.
本研究的目的是分析13三体胎儿中轴骨骼的发育情况，并确定在这种情况下中轴骨骼的哪些部位受到影响。我们研究了9例孕龄为14 - 19周的13三体胎儿。对全身X线片以及颅底和脊柱矢状面组织块的X线片进行了研究。在最年幼的胎儿（孕14周）中，未观察到畸形。在8例孕龄为17 - 19周的胎儿中，腰骶椎出现了畸形。在4例胎儿中，胸椎还出现了其他畸形。研究表明，腰骶椎和胸椎的畸形程度之间存在对应关系。当腰骶部出现轻度畸形时，胸部未观察到畸形；而当腰骶部出现广泛畸形时，胸部则观察到畸形。颈椎或枕骨基底部未出现畸形，但在6例可检查的病例中，蝶骨的蝶鞍后部较小且不规则。7例胎儿存在鼻骨畸形或发育不全。13三体胎儿中轴骨骼的这种畸形模式此前未被描述过。将其与先前关于18三体和21三体胎儿中轴骨骼的研究进行了比较，后者的畸形模式有所不同。我们重申我们的建议，即对于疑似或已证实存在染色体异常的胎儿，中轴骨骼X线摄影应作为尸检的一部分。
