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Nonfamilial VACTERL-H Syndrome in a Dizygotic Twin: Prenatal Ultrasound and Postnatal 3D CT Findings
- Title
- Nonfamilial VACTERL-H Syndrome in a Dizygotic Twin: Prenatal Ultrasound and Postnatal 3D CT Findings
- Authors
- Hong S.Y.; Kim S.J.; Park M.-H.; Lee K.A.
- Ewha Authors
- 박미혜; 이경아; 김수정
- SCOPUS Author ID
- 박미혜; 이경아; 김수정
- Issue Date
- 2023
- Journal Title
- Medicina (Lithuania)
- ISSN
- 1010-660X
- Citation
- Medicina (Lithuania) vol. 59, no. 8
- Keywords
- dizygotic twin; prenatal diagnosis; VACTERL-H
- Publisher
- Multidisciplinary Digital Publishing Institute (MDPI)
- Indexed
- SCIE; SCOPUS
- Document Type
- Article
- 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.
- DOI
- 10.3390/medicina59081387
- Appears in Collections:
- 의과대학 > 의학과 > Journal papers
- Files in This Item:
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medicina-59-01387-v2.pdf(15.46 MB)
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