Alobar holoprosencephaly and Trisomy 13 (Patau syndrome)
Holoprosencephaly (HPE) is a congenital defect of the brain, median structures, and face resulting from an incomplete cleavage of the primitive brain during early embryogenesis. The authors report a case of trisomy 13 syndrome diagnosed at prenatal follow up. The preterm newborn lived only 5 hours,...
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University of São Paulo
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doaj-c93ed957c90b4a1c85ddc4e4aef6ed912020-11-24T20:42:50ZengUniversity of São PauloAutopsy and Case Reports2236-19602013-06-013210.4322/acr.%y.5890957857Alobar holoprosencephaly and Trisomy 13 (Patau syndrome)Andressa Dias Costa0Regina Schultz1Sérgio Rosemberg2Department of Pathology - Hospital das Clínicas - Faculdade de Medicina - Universidade de São Paulo, São Paulo/SPDepartment of Pathology - Hospital das Clínicas - Faculdade de Medicina - Universidade de São Paulo, São Paulo/SPDepartment of Pathology - Hospital das Clínicas - Faculdade de Medicina - Universidade de São Paulo, São Paulo/SPHoloprosencephaly (HPE) is a congenital defect of the brain, median structures, and face resulting from an incomplete cleavage of the primitive brain during early embryogenesis. The authors report a case of trisomy 13 syndrome diagnosed at prenatal follow up. The preterm newborn lived only 5 hours, and died because of severe respiratory failure. The autopsy findings disclosed facial, skull, limbs, cardiac, and cerebral malformations. Among the latter, the presence of alobar HPE, the central theme of this report, was evident. The most common nonrandom chromosomal abnormality in patients with HPE is trisomy 13. The most severe variant, namely alobar HPE, is shown in this case report. Discussion on this severe anomaly, along with the case report with details of Patau’s syndrome, is the goal of this report.http://www.revistas.usp.br/autopsy/article/view/58909HoloprosencephalyNervous System MalformationsPatau syndromeAutopsy. |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Andressa Dias Costa Regina Schultz Sérgio Rosemberg |
spellingShingle |
Andressa Dias Costa Regina Schultz Sérgio Rosemberg Alobar holoprosencephaly and Trisomy 13 (Patau syndrome) Autopsy and Case Reports Holoprosencephaly Nervous System Malformations Patau syndrome Autopsy. |
author_facet |
Andressa Dias Costa Regina Schultz Sérgio Rosemberg |
author_sort |
Andressa Dias Costa |
title |
Alobar holoprosencephaly and Trisomy 13 (Patau syndrome) |
title_short |
Alobar holoprosencephaly and Trisomy 13 (Patau syndrome) |
title_full |
Alobar holoprosencephaly and Trisomy 13 (Patau syndrome) |
title_fullStr |
Alobar holoprosencephaly and Trisomy 13 (Patau syndrome) |
title_full_unstemmed |
Alobar holoprosencephaly and Trisomy 13 (Patau syndrome) |
title_sort |
alobar holoprosencephaly and trisomy 13 (patau syndrome) |
publisher |
University of São Paulo |
series |
Autopsy and Case Reports |
issn |
2236-1960 |
publishDate |
2013-06-01 |
description |
Holoprosencephaly (HPE) is a congenital defect of the brain, median structures, and face resulting from an incomplete cleavage of the primitive brain during early embryogenesis. The authors report a case of trisomy 13 syndrome diagnosed at prenatal follow up. The preterm newborn lived only 5 hours, and died because of severe respiratory failure. The autopsy findings disclosed facial, skull, limbs, cardiac, and cerebral malformations. Among the latter, the presence of alobar HPE, the central theme of this report, was evident. The most common nonrandom chromosomal abnormality in patients with HPE is trisomy 13. The most severe variant, namely alobar HPE, is shown in this case report. Discussion on this severe anomaly, along with the case report with details of Patau’s syndrome, is the goal of this report. |
topic |
Holoprosencephaly Nervous System Malformations Patau syndrome Autopsy. |
url |
http://www.revistas.usp.br/autopsy/article/view/58909 |
work_keys_str_mv |
AT andressadiascosta alobarholoprosencephalyandtrisomy13patausyndrome AT reginaschultz alobarholoprosencephalyandtrisomy13patausyndrome AT sergiorosemberg alobarholoprosencephalyandtrisomy13patausyndrome |
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1716821592519999488 |