PDF(Pubmed)
Abstract：
OBJECTIVE: To verify the prevalence and perform the clinical characterization of oral clefts in a sample of patients with trisomy of chromosome 18 in Southern Brazil.
METHODS: This was a retrospective cross-sectional study, performed in a reference clinical genetic service in Southern Brazil. The initial sample consisted of 77 patients diagnosed in the neonatal period with trisomy 18 treated at the Clinical Genetics Service of a referral hospital at Federal University of Health Sciences of Porto Alegre (UFCSPA). The patients\' diagnosis was confirmed by karyotype and care was provided during their stay in the intensive care unit (ICU) of the hospital that is a reference in Southern Brazil for care for malformed patients. The period covered was from 1975 to 2020.
RESULTS: During the study period, 77 patients diagnosed with trisomy 18 were treated, most of them in the ICU. Of these, 13 individuals were excluded due to incomplete data. The final sample consisted of 64 patients with an average age of 2.4 years of life, ranging from one day to 16 years old, the majority of whom were female. Regarding face dysmorphisms identified in the sample, three (4,68%) patients had cleft lip and two (3,11%) had cleft lip and palate.
CONCLUSIONS: This study contributed to the recognition of the characteristics and prevalence of oral clefts in individuals with trisomy 18 in a sample of patients from Southern Brazil. In addition, we described the clinical alterations found in patients with oral clefts, as well as other associated comorbidities, such as cardiac, neurological and pulmonary comorbidities, as well as cranial and facial dysmorphisms.
METHODS: This was a retrospective cross-sectional study, performed in a reference clinical genetic service in Southern Brazil. The initial sample consisted of 77 patients diagnosed in the neonatal period with trisomy 18 treated at the Clinical Genetics Service of a referral hospital at Federal University of Health Sciences of Porto Alegre (UFCSPA). The patients\' diagnosis was confirmed by karyotype and care was provided during their stay in the intensive care unit (ICU) of the hospital that is a reference in Southern Brazil for care for malformed patients. The period covered was from 1975 to 2020.
RESULTS: During the study period, 77 patients diagnosed with trisomy 18 were treated, most of them in the ICU. Of these, 13 individuals were excluded due to incomplete data. The final sample consisted of 64 patients with an average age of 2.4 years of life, ranging from one day to 16 years old, the majority of whom were female. Regarding face dysmorphisms identified in the sample, three (4,68%) patients had cleft lip and two (3,11%) had cleft lip and palate.
CONCLUSIONS: This study contributed to the recognition of the characteristics and prevalence of oral clefts in individuals with trisomy 18 in a sample of patients from Southern Brazil. In addition, we described the clinical alterations found in patients with oral clefts, as well as other associated comorbidities, such as cardiac, neurological and pulmonary comorbidities, as well as cranial and facial dysmorphisms.
摘要：
目的：在巴西南部的18号染色体三体性患者样本中验证口腔裂隙的患病率并进行临床表征。
方法：这是一项回顾性的横断面研究，在巴西南部的参考临床遗传服务中进行。最初的样本包括77名在新生儿期诊断为18三体的患者，这些患者在阿雷格里港联邦健康科学大学（UFCSPA）的转诊医院的临床遗传学服务中接受治疗。患者的诊断已通过核型确认，并在医院重症监护病房（ICU）住院期间提供护理，这是巴西南部畸形患者护理的参考。涵盖的时间是从1975年到2020年。
结果：在研究期间，77例诊断为18三体的患者接受治疗，大部分都在ICU。其中,由于数据不完整，排除了13人。最终样本包括64名平均年龄为2.4岁的患者，从一天到16岁，其中大多数是女性。关于样本中识别出的面部畸形，3例(4,68%)患者患有唇裂,2例(3,11%)患者患有唇裂和腭裂.
结论：这项研究有助于在来自巴西南部的18三体患者样本中识别口腔裂隙的特征和患病率。此外,我们描述了口腔裂隙患者的临床改变，以及其他相关的合并症，比如心脏，神经和肺部合并症，以及颅骨和面部畸形。
方法：这是一项回顾性的横断面研究，在巴西南部的参考临床遗传服务中进行。最初的样本包括77名在新生儿期诊断为18三体的患者，这些患者在阿雷格里港联邦健康科学大学（UFCSPA）的转诊医院的临床遗传学服务中接受治疗。患者的诊断已通过核型确认，并在医院重症监护病房（ICU）住院期间提供护理，这是巴西南部畸形患者护理的参考。涵盖的时间是从1975年到2020年。
结果：在研究期间，77例诊断为18三体的患者接受治疗，大部分都在ICU。其中,由于数据不完整，排除了13人。最终样本包括64名平均年龄为2.4岁的患者，从一天到16岁，其中大多数是女性。关于样本中识别出的面部畸形，3例(4,68%)患者患有唇裂,2例(3,11%)患者患有唇裂和腭裂.
结论：这项研究有助于在来自巴西南部的18三体患者样本中识别口腔裂隙的特征和患病率。此外,我们描述了口腔裂隙患者的临床改变，以及其他相关的合并症，比如心脏，神经和肺部合并症，以及颅骨和面部畸形。
