Holoprosencephaly in Patau Syndrome
ABSTRACT Objective: To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the association of both pathologies. Case description: This case report is about a female infant, born at term with tris...
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| Format: | Article |
| Language: | English |
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Sociedade de Pediatria de São Paulo
2023-03-01
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| Series: | Revista Paulista de Pediatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822023000100604&lng=en&tlng=en |
| _version_ | 1797871122193055744 |
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| author | Amanda de Souza Schlosser Giovani José Coury Costa Henrique Salmazo da Silva Juan Luca Menezes de Mello Lucy de Oliveira Gomes Marina Michalski Oliveira Onoyama Tatiana Martins Coury Costa |
| author_facet | Amanda de Souza Schlosser Giovani José Coury Costa Henrique Salmazo da Silva Juan Luca Menezes de Mello Lucy de Oliveira Gomes Marina Michalski Oliveira Onoyama Tatiana Martins Coury Costa |
| author_sort | Amanda de Souza Schlosser |
| collection | DOAJ |
| description | ABSTRACT Objective: To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the association of both pathologies. Case description: This case report is about a female infant, born at term with trisomy of the chromosome 13 and semilobar holoprosencephaly, with thalamic fusion and a single cerebral ventricle, in addition to several other changes that worsened the patient's prognosis. Comments: Chromosome 13 trisomy is a genetic alteration that leads to the symptoms that determines Patau syndrome. In this syndrome, cardiovascular, urogenital, central nervous system, facial structure and intellectual impairment are common, in addition to problems in limb formation, such as decreased humerus and femur length, polydactyly, hypotelorism and low ear implantation. It is estimated, however, that holoprosencephaly is present in only 24 to 45% of the patients with trisomy 13. |
| first_indexed | 2024-04-10T00:39:13Z |
| format | Article |
| id | doaj.art-140097e0918c4aa1a54abb73c9f26f26 |
| institution | Directory Open Access Journal |
| issn | 1984-0462 |
| language | English |
| last_indexed | 2024-04-10T00:39:13Z |
| publishDate | 2023-03-01 |
| publisher | Sociedade de Pediatria de São Paulo |
| record_format | Article |
| series | Revista Paulista de Pediatria |
| spelling | doaj.art-140097e0918c4aa1a54abb73c9f26f262023-03-14T07:33:14ZengSociedade de Pediatria de São PauloRevista Paulista de Pediatria1984-04622023-03-014110.1590/1984-0462/2023/41/2022027Holoprosencephaly in Patau SyndromeAmanda de Souza Schlosserhttps://orcid.org/0000-0003-1508-9709Giovani José Coury Costahttps://orcid.org/0000-0002-4611-3751Henrique Salmazo da Silvahttps://orcid.org/0000-0002-3888-4214Juan Luca Menezes de Mellohttps://orcid.org/0000-0002-4847-3312Lucy de Oliveira Gomeshttps://orcid.org/0000-0002-6673-5507Marina Michalski Oliveira Onoyamahttps://orcid.org/0000-0002-3973-244XTatiana Martins Coury Costahttps://orcid.org/0000-0001-7759-5418ABSTRACT Objective: To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the association of both pathologies. Case description: This case report is about a female infant, born at term with trisomy of the chromosome 13 and semilobar holoprosencephaly, with thalamic fusion and a single cerebral ventricle, in addition to several other changes that worsened the patient's prognosis. Comments: Chromosome 13 trisomy is a genetic alteration that leads to the symptoms that determines Patau syndrome. In this syndrome, cardiovascular, urogenital, central nervous system, facial structure and intellectual impairment are common, in addition to problems in limb formation, such as decreased humerus and femur length, polydactyly, hypotelorism and low ear implantation. It is estimated, however, that holoprosencephaly is present in only 24 to 45% of the patients with trisomy 13.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822023000100604&lng=en&tlng=enTrisomy 13 syndromePatau syndromeChromosome 13 duplicationHoloprosencephalySemilobar holoprosencephalyCongenital abnormalities |
| spellingShingle | Amanda de Souza Schlosser Giovani José Coury Costa Henrique Salmazo da Silva Juan Luca Menezes de Mello Lucy de Oliveira Gomes Marina Michalski Oliveira Onoyama Tatiana Martins Coury Costa Holoprosencephaly in Patau Syndrome Revista Paulista de Pediatria Trisomy 13 syndrome Patau syndrome Chromosome 13 duplication Holoprosencephaly Semilobar holoprosencephaly Congenital abnormalities |
| title | Holoprosencephaly in Patau Syndrome |
| title_full | Holoprosencephaly in Patau Syndrome |
| title_fullStr | Holoprosencephaly in Patau Syndrome |
| title_full_unstemmed | Holoprosencephaly in Patau Syndrome |
| title_short | Holoprosencephaly in Patau Syndrome |
| title_sort | holoprosencephaly in patau syndrome |
| topic | Trisomy 13 syndrome Patau syndrome Chromosome 13 duplication Holoprosencephaly Semilobar holoprosencephaly Congenital abnormalities |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822023000100604&lng=en&tlng=en |
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