Patau Syndrome - A Rare Trisomy
Márcio Luís Duarte1, Thaís Amanda Frank de Almeida Alves2, Marco Antonio Alves Braun2, Lucas Ribeiro dos Santos2 and Élcio Roberto Duarte3*
1Webimagem Telerradiologia, Brazil
2Faculdade de Ciências Médicas de Santos, Brazil
3Irmandade da Santa Casa de Misericórdia de Santos, Brazil
*Corresponding Author: Élcio Roberto Duarte, Department of Ultrasonography, Irmandade da Santa Casa de Misericórdia de Santos, Brazil.
Received: August 13, 2021; Published: August 27, 2021
Patau syndrome is a rare chromosomal syndrome, with a prevalence of 1 case every 5000 - 12000 births, being the third most common multiple malformations. In most cases, the extra chromosome 13 for trisomy comes from the mother. However, in 80% of the cases, a mutation occurs with non-separation in maternal meiosis. It is characterized by multiple and varied malformations, the main abnormalities being severe mental retardation, hypotonia, skeletal and midline malformations, facial defects, holoprosencephaly - being the most common the alobar form, cardiac defects, omphalocele and polydactyly, besides presenting a survival. too short, rarely reaching childhood. At ultrasonography, evaluation of the fetal face (including ears) and extremities (including hands and feet) with the extensive use of fetal echocardiography increases the sensitivity of the method to detect pathology.
Keywords: Fetus; Infant; Newborn; Trisomy 13 Syndrome; Ultrasonography; Prenatal Care
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