Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 박미혜 | * |
dc.contributor.author | 이경아 | * |
dc.contributor.author | 김수정 | * |
dc.date.accessioned | 2024-01-18T16:36:26Z | - |
dc.date.available | 2024-01-18T16:36:26Z | - |
dc.date.issued | 2023 | * |
dc.identifier.issn | 1010-660X | * |
dc.identifier.other | OAK-33974 | * |
dc.identifier.uri | https://dspace.ewha.ac.kr/handle/2015.oak/266691 | - |
dc.description.abstract | Background: VACTERL association is a widely known congenital malformation that includes vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Patients with VACTERL and hydrocephalus appear to form a distinct group, both genetically and phenotypically, and their condition has been called VACTERL-H syndrome. Most cases of VACTERL-H have been reported postnatally, as VACTER-H syndrome is difficult to diagnose prenatally. Case Presentation: Here, we report a case of VACTERL-H syndrome in a dichorionic and diamniotic twin diagnosed prenatally by ultrasonography and confirmed postnatally by three-dimensional computed tomography (3D CT). A 34-year-old multiparous female was referred to our institution at 31 + 3 weeks gestation for suspected fetal ventriculomegaly. Detailed examinations using two-dimensional and Doppler ultrasounds revealed hydrocephalus, bilateral dysplastic upper arms, radial aplasia, unilateral pulmonary agenesis, dextrocardia with right atrial enlargement, a unilateral hypoplastic ectopic kidney, a single umbilical artery, a tracheoesophageal fistula with a small stomach, polyhydramnios, and anal atresia. Findings from the postnatal 3D CT aligned with the prenatal diagnosis, showing upper-limb agenesis, dextrocardia with pulmonary hypoplasia, tracheoesophageal fistula, imperforate anus, and colon dilatation. The affected 1390-g male twin had an unaffected 1890-g female twin sister and a healthy 6-year-old brother. Conclusions: Upon encountering fetuses with multiple anomalies, including ventriculomegaly, a small stomach with polyhydramnios, an abnormally positioned heart, and upper-limb abnormalities, clinicians should perform systematic ultrasonographic examinations to detect associated anomalies and be aware of VACTERL-H syndrome. © 2023 by the authors. | * |
dc.language | English | * |
dc.publisher | Multidisciplinary Digital Publishing Institute (MDPI) | * |
dc.subject | dizygotic twin | * |
dc.subject | prenatal diagnosis | * |
dc.subject | VACTERL-H | * |
dc.title | Nonfamilial VACTERL-H Syndrome in a Dizygotic Twin: Prenatal Ultrasound and Postnatal 3D CT Findings | * |
dc.type | Article | * |
dc.relation.issue | 8 | * |
dc.relation.volume | 59 | * |
dc.relation.index | SCIE | * |
dc.relation.index | SCOPUS | * |
dc.relation.journaltitle | Medicina (Lithuania) | * |
dc.identifier.doi | 10.3390/medicina59081387 | * |
dc.identifier.wosid | WOS:001057403100001 | * |
dc.identifier.scopusid | 2-s2.0-85168736714 | * |
dc.author.google | Hong S.Y. | * |
dc.author.google | Kim S.J. | * |
dc.author.google | Park M.-H. | * |
dc.author.google | Lee K.A. | * |
dc.contributor.scopusid | 박미혜(57218662303;58492640400) | * |
dc.contributor.scopusid | 이경아(57203464136) | * |
dc.contributor.scopusid | 김수정(58221361200) | * |
dc.date.modifydate | 20240426132218 | * |