{"title":"clinodacty的产前诊断及其与遗传综合征的关系:1例报告。","authors":"Themistoklis Loukopoulos, Athanasios Zikopoulos, Nikolaos Vlassis, Emmanouil Manolakos, Sotirios Sotiriou, Anastasia Vatopoulou, Fani Gkrozou, Anastasios Potiris, Sofoklis Stavros, Charikleia Skentou","doi":"10.1016/j.crwh.2024.e00674","DOIUrl":null,"url":null,"abstract":"<p><p>A curvature of a finger that bends inwards relative to the other fingers is a common observation during prenatal screening. When the angulation exceeds 10 degrees, it is known as \"clinodactyly\" and could suggest a variety of underlying issues. Even though it usually remains unnoticed during pregnancy, it may be a sign of serious fetal disease. We report the case of a fetus diagnosed with clinodactyly of the thumb accompanied by tachycardia, abnormal levels of maternal hormones in the first trimester and increased impedance to flow in the uterine arteries. Although non-invasive prenatal testing was normal, amniocentesis was carried out and two deviations at chromosome 20 were identified through molecular karyotyping. Our report aims to raise clinical suspicion regarding the potential association between genetic abnormalities and clinodactyly. A careful clinical and genetic consultation is required in order to achieve the most favorable outcome for both mother and child.</p>","PeriodicalId":9657,"journal":{"name":"Case Reports in Women's Health","volume":"44 ","pages":"e00674"},"PeriodicalIF":0.7000,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11667062/pdf/","citationCount":"0","resultStr":"{\"title\":\"Prenatal diagnosis of clinodactyly and its association with genetic syndromes: A case report.\",\"authors\":\"Themistoklis Loukopoulos, Athanasios Zikopoulos, Nikolaos Vlassis, Emmanouil Manolakos, Sotirios Sotiriou, Anastasia Vatopoulou, Fani Gkrozou, Anastasios Potiris, Sofoklis Stavros, Charikleia Skentou\",\"doi\":\"10.1016/j.crwh.2024.e00674\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A curvature of a finger that bends inwards relative to the other fingers is a common observation during prenatal screening. When the angulation exceeds 10 degrees, it is known as \\\"clinodactyly\\\" and could suggest a variety of underlying issues. Even though it usually remains unnoticed during pregnancy, it may be a sign of serious fetal disease. We report the case of a fetus diagnosed with clinodactyly of the thumb accompanied by tachycardia, abnormal levels of maternal hormones in the first trimester and increased impedance to flow in the uterine arteries. Although non-invasive prenatal testing was normal, amniocentesis was carried out and two deviations at chromosome 20 were identified through molecular karyotyping. Our report aims to raise clinical suspicion regarding the potential association between genetic abnormalities and clinodactyly. A careful clinical and genetic consultation is required in order to achieve the most favorable outcome for both mother and child.</p>\",\"PeriodicalId\":9657,\"journal\":{\"name\":\"Case Reports in Women's Health\",\"volume\":\"44 \",\"pages\":\"e00674\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2024-12-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11667062/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Women's Health\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1016/j.crwh.2024.e00674\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/12/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Women's Health","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1016/j.crwh.2024.e00674","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/12/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
Prenatal diagnosis of clinodactyly and its association with genetic syndromes: A case report.
A curvature of a finger that bends inwards relative to the other fingers is a common observation during prenatal screening. When the angulation exceeds 10 degrees, it is known as "clinodactyly" and could suggest a variety of underlying issues. Even though it usually remains unnoticed during pregnancy, it may be a sign of serious fetal disease. We report the case of a fetus diagnosed with clinodactyly of the thumb accompanied by tachycardia, abnormal levels of maternal hormones in the first trimester and increased impedance to flow in the uterine arteries. Although non-invasive prenatal testing was normal, amniocentesis was carried out and two deviations at chromosome 20 were identified through molecular karyotyping. Our report aims to raise clinical suspicion regarding the potential association between genetic abnormalities and clinodactyly. A careful clinical and genetic consultation is required in order to achieve the most favorable outcome for both mother and child.