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- Title
Holoprosencephaly in Patau Syndrome.
- Authors
de Souza Schlosser, Amanda; Coury Costa, Giovani José; Salmazo da Silva, Henrique; Menezes de Mello, Juan Luca; de Oliveira Gomes, Lucy; Oliveira Onoyama, Marina Michalski; Coury Costa, Tatiana Martins
- 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.
- Subjects
TRISOMY 13 syndrome; CRANIOFACIAL abnormalities; CEREBRAL ventricles; CENTRAL nervous system
- Publication
Revista Paulista de Pediatria, 2023, Vol 41, p1
- ISSN
0103-0582
- Publication type
Article
- DOI
10.1590/1984-0462/2023/41/2022027