Holoprosencephaly in Patau Syndrome.
Amanda de Souza SchlosserGiovani José Coury CostaHenrique Salmazo da SilvaJuan Luca Menezes de MelloLucy de Oliveira GomesMarina Michalski Oliveira OnoyamaTatiana Martins Coury CostaPublished in: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo (2023)
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.