Universidade Católica de Brasília, Brasília, DF, Brazil.
Centro Universitário do Planalto Central Apparecido dos Santos, Brasília, DF, Brazil.
Rev Paul Pediatr. 2023 Mar 13;41:e2022027. doi: 10.1590/1984-0462/2023/41/2022027. eCollection 2023.
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.
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.
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.
评估 13 三体综合征和半叶全前脑畸形患者的影像学（妊娠和围产期）和新生儿体征，并报告这两种病变的关联。
这是一例女性婴儿，足月出生，存在 13 号染色体三体和半叶全前脑畸形，丘脑融合，单脑室，此外还有其他一些改变，使患者的预后恶化。
13 三体综合征是一种遗传改变，导致了 Patau 综合征的症状。在这种综合征中，心血管、泌尿生殖、中枢神经系统、面部结构和智力障碍是常见的，此外，还存在肢体形成问题，如肱骨和股骨长度减少、多趾畸形、眼距过宽和耳朵位置低。然而，据估计，仅 24%至 45%的 13 三体综合征患者存在全前脑畸形。
