Displasia tanatofórica: Relato de dois casos com estudo neuropatológico

Noronha, Lúcia de; Prevedello, Luciano M.; Maggio, Everton M.; Serapião, Maria José; Torres, Luíz Fernando Bleggi

doi:10.1590/s0004-282x2002000100024

Cited by 5 publications

(2 citation statements)

References 9 publications

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“…Miller et al [11] have stated that it is important to assess the brains of fetuses with suspected thanatophoric dwarfism because the presence of associated brain malformations can assist in the antenatal diagnosis and accurate counselling of patients. Noronha et al [12] in report of 2 cases of thanatophoric dysplasia have reported that both cases revealed temporal lobe polymicrogyria, abnormalities of the hippocampus and heterotopic neuroglial tissue within the meninges.…”

Section: Discussionmentioning

confidence: 99%

Thanatophoric Dysplasia and the Brain—A Perinatal Pathology Study

Shinde

Srinivasan

Raja

et al. 2018

Journal of Fetal Medicine

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The purpose of this article is to analyse all cases of thanatophoric dysplasia and document the associated CNS anomalies. A retrospective study of all cases of thanatophoric dysplasia diagnosed in the department of perinatal pathology from January 2009 to December 2016. The various associated findings with due reference to the CNS manifestations were analyzed. During the study period, 7741 foetal autopsies were done, of which 24 (0.31%) were diagnosed to have thanatophoric dysplasia. The brain of one case was autolysed and hence, this had been excluded from this study. Of the 23 cases, 19 were of type 1 (83%) and 4 were of type 2 (17%). CNS anomalies were present in all. In our series, the characteristic findings seen in TD type 1 were enlarged skull, short neck, narrow thorax, protuberant abdomen, severe rhizoacromelic shortening of all four limbs with bowing of lower limbs. Whereas, type 2 manifested with large clover leaf skull with frontal bossing, short neck, short ribs, protuberant abdomen, severe rhizoacromelic shortening of all four limbs. Both the types had their characteristic fetogram findings. Central nervous system anomalies were seen in all 23 cases; which were multiple bilateral clefts seen in the inferior surface of the temporal lobe and medial surface of the occipital lobe. There were no noticeable differences in CNS abnormalities between TD type I and II. Clefting disorders consistently seen in the present series and in other reports calls for attention to be given to cortical malformations of the temporal lobe. This constellation of brain abnormalities needs recognition in fetal imaging and we propose that this should be included in the guidelines for diagnosis of thanatophoric dysplasia.

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Section: Discussionmentioning

confidence: 99%

Thanatophoric Dysplasia and the Brain—A Perinatal Pathology Study

Shinde

Srinivasan

Raja

et al. 2018

Journal of Fetal Medicine

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“…Thanatophoric dysplasia consists in a lethal congenital disease related to genetic mutations with bone and neural repercussions and it is characterized by bone dysplasia with shortening of the limbs, hypo-plastic ribcage and macrocephaly. Its approximate incidence in the population is of 1 to 35,000-50,000 births, being a disease with low rate of recurrence in following pregnancies 14 . Most cases are stillborn and those who are born alive die shortly after birth.…”

Section: Congenital Anomalies Incompatible With Extrauterine Lifementioning

confidence: 99%

Anencefalia e anomalias congênitas: contribuição do patologista ao Poder Judiciário

Gazzola

Melo

2015

Rev. Bioét.

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Resumo O Supremo Tribunal Federal, em 2012, proferiu decisão histórica no bojo da Arguição de Descumprimento de Preceito Fundamental 54, baseando-se na premissa de que somente o feto com capacidade de ser pessoa pode ser sujeito passivo do crime de aborto. O tema é dos mais importantes, pois envolve dignidade, liberdade, autodeterminação e direitos individuais. Decidiu-se que a antecipação terapêutica do parto, nessa situação, não constitui aborto, uma vez que esse tipo penal pressupõe potencialidade de vida extrauterina. Ressalta-se a existência de numerosas síndromes malformativas, também incompatíveis com a vida extrauterina, que devem ser objeto de regulamentação, com base na isonomia. É fundamental o diagnóstico intraútero, além do estudo minucioso do produto da concepção, mediante necropsia realizada por equipe especializada. Importa, ainda, privilegiar o debate e conferir tratamento jurídico semelhante a condições fetais que, embora não tão conhecidas como a anencefalia, acarretam o mesmo impacto social e condições jurídicas análogas.

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The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis

2005

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Thanatophoric dysplasia (TD) is a relatively common, fatal form of chondrodysplastic dwarfism in which the cerebral cortex displays a unique and complex malformation. The malformation is characterized by a combination of abnormalities, which affect the temporal lobe most severely. Salient features include temporal lobe enlargement, deep transverse sulci across the inferomedial temporal surface, and hippocampal dysplasia. TD is caused by mutations of the fibroblast growth factor (FGF) receptor 3 gene (FGFR3), which result in constitutive activation of the FGFR3 tyrosine kinase. However, the link between constitutive FGFR3 activation and malformation of the cortex has been difficult to elucidate. In this review, I describe the neuropathological features of human TD, especially the cortical malformation, ascertained by examination of 45 published cases and 5 new cases, spanning gestational ages from 18 to 42 weeks. The cortical malformation is interpreted with regard to developmental mechanisms, and observations from a mouse model of TD. The evidence suggests that FGFR3 activation perturbs three key processes in cortical development: areal patterning, progenitor proliferation, and apoptosis. Defective patterning accounts for hippocampal dysplasia, while increased proliferation and decreased apoptosis account for temporal lobe hyperplasia and premature development of aberrant sulci. Disturbances in these processes may also contribute to other cortical malformations.

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Displasia tanatofórica: Relato de dois casos com estudo neuropatológico

Cited by 5 publications

References 9 publications

Thanatophoric Dysplasia and the Brain—A Perinatal Pathology Study

Thanatophoric Dysplasia and the Brain—A Perinatal Pathology Study

Anencefalia e anomalias congênitas: contribuição do patologista ao Poder Judiciário

The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis

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