{"title":"唐氏综合征患儿先天性甲状腺功能减退1例报告","authors":"Halyna Bulak, Yaryna Kozak","doi":"10.31031/RPN.2020.04.000585","DOIUrl":null,"url":null,"abstract":"reflexes, cold, mottled skin, acrocyanosis; jaundice ; pallor of the mucous ; watery eye discharge, including light yellow mucus component. Stigmas of dysembriogenesis-phenotype features of Down syndrome. Pulmonary auscultation was normal. Cardiovascular auscultation revealed sonorous, rhythmic heart tones, a systolic murmur radiating in the back. Liver palpating up to 2.0cm below the costal arch. The urogenital system was developed in male type, testicles were in scrotum. Urinary output was spontaneous. Stool formed without Abstract Congenital hypothyroidism is one of the most common congenital pathology of endocrine system in newborns. Among other diseases causing nervous system disorders in children, congenital hypothyroidism provides most promising treatment results for further child development. The earlier replacement therapy is started, the better results can be expected. This in its turn can only be possible with early diagnostics, mostly on subclinical stages, by screening newborns for this pathology. This article represents a clinical case of congenital hypothyroidism diagnosed on its early stage. jaundice, congenital hydrocephaly, Down syndrome, conjunctivitis, congenital hypothyroidism, congenital heart defect arterial duct and patent foramen ovale).","PeriodicalId":153075,"journal":{"name":"Research in Pediatrics & Neonatology","volume":"60 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2020-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Congenital Hypothyroidism in Child with Down syndrome - A Case Report\",\"authors\":\"Halyna Bulak, Yaryna Kozak\",\"doi\":\"10.31031/RPN.2020.04.000585\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"reflexes, cold, mottled skin, acrocyanosis; jaundice ; pallor of the mucous ; watery eye discharge, including light yellow mucus component. Stigmas of dysembriogenesis-phenotype features of Down syndrome. Pulmonary auscultation was normal. Cardiovascular auscultation revealed sonorous, rhythmic heart tones, a systolic murmur radiating in the back. Liver palpating up to 2.0cm below the costal arch. The urogenital system was developed in male type, testicles were in scrotum. Urinary output was spontaneous. Stool formed without Abstract Congenital hypothyroidism is one of the most common congenital pathology of endocrine system in newborns. Among other diseases causing nervous system disorders in children, congenital hypothyroidism provides most promising treatment results for further child development. The earlier replacement therapy is started, the better results can be expected. This in its turn can only be possible with early diagnostics, mostly on subclinical stages, by screening newborns for this pathology. This article represents a clinical case of congenital hypothyroidism diagnosed on its early stage. jaundice, congenital hydrocephaly, Down syndrome, conjunctivitis, congenital hypothyroidism, congenital heart defect arterial duct and patent foramen ovale).\",\"PeriodicalId\":153075,\"journal\":{\"name\":\"Research in Pediatrics & Neonatology\",\"volume\":\"60 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-01-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Research in Pediatrics & Neonatology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.31031/RPN.2020.04.000585\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Research in Pediatrics & Neonatology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.31031/RPN.2020.04.000585","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Congenital Hypothyroidism in Child with Down syndrome - A Case Report
reflexes, cold, mottled skin, acrocyanosis; jaundice ; pallor of the mucous ; watery eye discharge, including light yellow mucus component. Stigmas of dysembriogenesis-phenotype features of Down syndrome. Pulmonary auscultation was normal. Cardiovascular auscultation revealed sonorous, rhythmic heart tones, a systolic murmur radiating in the back. Liver palpating up to 2.0cm below the costal arch. The urogenital system was developed in male type, testicles were in scrotum. Urinary output was spontaneous. Stool formed without Abstract Congenital hypothyroidism is one of the most common congenital pathology of endocrine system in newborns. Among other diseases causing nervous system disorders in children, congenital hypothyroidism provides most promising treatment results for further child development. The earlier replacement therapy is started, the better results can be expected. This in its turn can only be possible with early diagnostics, mostly on subclinical stages, by screening newborns for this pathology. This article represents a clinical case of congenital hypothyroidism diagnosed on its early stage. jaundice, congenital hydrocephaly, Down syndrome, conjunctivitis, congenital hypothyroidism, congenital heart defect arterial duct and patent foramen ovale).