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Lomholt Jens Fog Fischer-Hansen Birgit Keeling Jean W. Reintoft Ingermarie Kjær Inger 《Pediatric and developmental pathology》2004,7(6):601-606
Anencephaly is a designation for congenital absence of the cranial vault with cerebral hemispheres completely missing or decreased
to small masses attached to the base of the skull. The etiology is unknown. Whether the bony tissue or soft brain tissue is
a primary factor is also unknown. The present study has focused on the posterior cranial fossa in anencephaly. The goal is
to determine whether differences in the posterior cranial fossa could provide a basis for subclassification of anencephalic
fetal skeletons. Twenty-three human anencephalic fetuses, at gestational ages 13 to 22 weeks, were studied. Radiologic and
cephalometric analyses, including measurements of bone sizes and different angles, were performed. Permission for autopsy
of the central nervous system was not available. For comparison of anencephalic findings with normal conditions, standards
from a recent publication were used. Foot length served as a parameter for age comparison. The study showed 2 morphologic
types of the posterior cranial fossa. One type had a fossa cranial morphology close to normal morphology, whereas the other
had a malformed and much smaller posterior cranial fossa. The latter condition was presumed to be due to a primary error in
chondral and cranial development. The current skeletal subgrouping might be essential for clinicians’ or pathologists’ future
assessment of the autopsy results. The skeletal subgrouping should, if possible, be associated with karyotyping and analysis
of the central nervous system. The goal is to distinguish between congenital conditions resulting in anencephaly and acquired
conditions resulting in anencephaly.
published online November 17, 2004. 相似文献
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Inger Kjr Jean W. Keeling Ingermarie Reintoft Helle Hjalgrim Dorrit Nolting Birgit Fischer Hansen 《American journal of medical genetics. Part A》1998,76(1):87-92
The purpose of this study was to elucidate the phenotypic conditions in the sella turcica/pituitary gland complex in human trisomy 18 fetuses. Fourteen human fetuses with gestational ages from 12 to 39 weeks were included in the study. Normal fetuses at corresponding ages were used as controls. Whole body and special radiographic examination was undertaken before the midsagittal cranial base block, including the pituitary gland, was excised and analyzed histologically and immunohistochemically (keratin wide spectrum [KWS], thyroid-stimulating hormone [TSH], and neurophysin [Nph]). In all trisomy 18 fetuses, TSH-positive adenopituitary tissue was present in the sella and in greater or lesser amounts pharyngeally. The neurohypophysis was Nph-positive and located normally in the sella turcica. The adenohypophyseal tissue reacted either KWS-faint or KWS-negative, whereas KWS-positive reaction occurs in normal fetuses. This circumstance might suggest an altered cytoskeletal structure of the surface ectoderm in the pituitary placode in trisomy 18. The sella turcica was malformed in all the fetuses. Very broad craniopharyngeal canals were observed in some of the fetuses. Because endocrine disorders occur in many congenital malformations, it is essential in future studies to chart the sella turcica/pituitary gland region systematically in different genotypes. Am. J. Med. Genet. 76:87–92, 1998. © 1998 Wiley-Liss, Inc. 相似文献
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Inger Kjr Jean W. Keeling Ingermarie Reintoft Dorrit Nolting Birgit Fischer Hansen 《American journal of medical genetics. Part A》1998,80(5):494-500
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. Am. J. Med. Genet. 80:494–500, 1998. © 1998 Wiley-Liss, Inc. 相似文献
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