{"title":"Joubert综合征和Beckwith-Wiedemann综合征患儿出生前后的诊断和遗传咨询。","authors":"Yuri Hasegawa, Shoko Miura, Masayo Kagami, Sumito Dateki, Kiyonori Miura","doi":"10.7759/cureus.80677","DOIUrl":null,"url":null,"abstract":"<p><p>The patient was a second child prenatally diagnosed with Joubert syndrome (JS) by ultrasound examination and family history of a first child with JS. After birth, the patient was also diagnosed with Beckwith-Wiedemann syndrome. Here, we report this case as a lesson on the importance of focusing on diagnosing the first hereditary disease and also considering the possibility of the development of a second genetic disease when providing treatment. We were able to confirm the diagnosis of both syndromes by detailed genetic testing after birth, allowing genetic counseling for future treatment and the next pregnancy.</p>","PeriodicalId":93960,"journal":{"name":"Cureus","volume":"17 3","pages":"e80677"},"PeriodicalIF":1.0000,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11911710/pdf/","citationCount":"0","resultStr":"{\"title\":\"Diagnosis and Genetic Counseling Before and After the Birth of Children With Joubert Syndrome and Beckwith-Wiedemann Syndrome.\",\"authors\":\"Yuri Hasegawa, Shoko Miura, Masayo Kagami, Sumito Dateki, Kiyonori Miura\",\"doi\":\"10.7759/cureus.80677\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The patient was a second child prenatally diagnosed with Joubert syndrome (JS) by ultrasound examination and family history of a first child with JS. After birth, the patient was also diagnosed with Beckwith-Wiedemann syndrome. Here, we report this case as a lesson on the importance of focusing on diagnosing the first hereditary disease and also considering the possibility of the development of a second genetic disease when providing treatment. We were able to confirm the diagnosis of both syndromes by detailed genetic testing after birth, allowing genetic counseling for future treatment and the next pregnancy.</p>\",\"PeriodicalId\":93960,\"journal\":{\"name\":\"Cureus\",\"volume\":\"17 3\",\"pages\":\"e80677\"},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2025-03-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11911710/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cureus\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.7759/cureus.80677\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/3/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cureus","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.7759/cureus.80677","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/3/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Diagnosis and Genetic Counseling Before and After the Birth of Children With Joubert Syndrome and Beckwith-Wiedemann Syndrome.
The patient was a second child prenatally diagnosed with Joubert syndrome (JS) by ultrasound examination and family history of a first child with JS. After birth, the patient was also diagnosed with Beckwith-Wiedemann syndrome. Here, we report this case as a lesson on the importance of focusing on diagnosing the first hereditary disease and also considering the possibility of the development of a second genetic disease when providing treatment. We were able to confirm the diagnosis of both syndromes by detailed genetic testing after birth, allowing genetic counseling for future treatment and the next pregnancy.
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