Ana Elisa Souza, A. Garcia, F. Barcelos, Letícia Vaz, Luciana Matos, Ana Luisa Giarolla, Juliana Marcelino
{"title":"科妮莉亚·德·兰格综合征1例报告","authors":"Ana Elisa Souza, A. Garcia, F. Barcelos, Letícia Vaz, Luciana Matos, Ana Luisa Giarolla, Juliana Marcelino","doi":"10.25060/residpediatr-2022.v12n2-303","DOIUrl":null,"url":null,"abstract":"Cornelia de Lange syndrome (CdLS) is a rare genetic disorder, caused by variants of cohesin complex genes. The disease is characterized by multiple congenital anomalies, which include distinctive facial features, prenatal and postnatal growth deficiency, neuropsychomotor delay, gastroesophageal reflux disease and upper limb malformations. We describe the case of a male patient who presented phenotypic alterations compatible with the classic form of CdLS. The diagnosis can be clinically determined even in the absence of molecular confirmation. Orogastric tube and admission to a neonatal Intensive Care Unit were necessary due to difficulties with suction. Subsequently, the patient underwent gastrostomy. In patients with CdLS, strict monitoring of weight gain, cardiac and urinary tract malformations and visual and hearing deficits is essential.","PeriodicalId":338092,"journal":{"name":"Residência Pediátrica","volume":"65 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Cornelia de Lange syndrome: a case report\",\"authors\":\"Ana Elisa Souza, A. Garcia, F. Barcelos, Letícia Vaz, Luciana Matos, Ana Luisa Giarolla, Juliana Marcelino\",\"doi\":\"10.25060/residpediatr-2022.v12n2-303\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Cornelia de Lange syndrome (CdLS) is a rare genetic disorder, caused by variants of cohesin complex genes. The disease is characterized by multiple congenital anomalies, which include distinctive facial features, prenatal and postnatal growth deficiency, neuropsychomotor delay, gastroesophageal reflux disease and upper limb malformations. We describe the case of a male patient who presented phenotypic alterations compatible with the classic form of CdLS. The diagnosis can be clinically determined even in the absence of molecular confirmation. Orogastric tube and admission to a neonatal Intensive Care Unit were necessary due to difficulties with suction. Subsequently, the patient underwent gastrostomy. In patients with CdLS, strict monitoring of weight gain, cardiac and urinary tract malformations and visual and hearing deficits is essential.\",\"PeriodicalId\":338092,\"journal\":{\"name\":\"Residência Pediátrica\",\"volume\":\"65 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1900-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Residência Pediátrica\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.25060/residpediatr-2022.v12n2-303\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Residência Pediátrica","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25060/residpediatr-2022.v12n2-303","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
Cornelia de Lange综合征(CdLS)是一种罕见的遗传性疾病,由粘接蛋白复合物基因变异引起。该疾病的特点是多种先天性异常,包括独特的面部特征,产前和产后生长缺陷,神经精神运动迟缓,胃食管反流病和上肢畸形。我们描述的情况下,男性患者谁提出表型改变兼容的CdLS的经典形式。即使在没有分子证实的情况下,临床诊断也可以确定。由于抽吸困难,必须使用口胃管并送入新生儿重症监护病房。随后,患者接受了胃造口术。在CdLS患者中,严格监测体重增加、心脏和尿路畸形以及视力和听力缺陷是必不可少的。
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder, caused by variants of cohesin complex genes. The disease is characterized by multiple congenital anomalies, which include distinctive facial features, prenatal and postnatal growth deficiency, neuropsychomotor delay, gastroesophageal reflux disease and upper limb malformations. We describe the case of a male patient who presented phenotypic alterations compatible with the classic form of CdLS. The diagnosis can be clinically determined even in the absence of molecular confirmation. Orogastric tube and admission to a neonatal Intensive Care Unit were necessary due to difficulties with suction. Subsequently, the patient underwent gastrostomy. In patients with CdLS, strict monitoring of weight gain, cardiac and urinary tract malformations and visual and hearing deficits is essential.