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- Title
Kleefstra syndrome presenting as pulmonary atresia with intact ventricular septum diagnosed prenatally at 16 weeks using four‐dimensional spatiotemporal image correlation.
- Authors
Senthilvel, Karthik
- Abstract
This article discusses a rare genetic condition called Kleefstra syndrome, which is characterized by intellectual disability, hypotonia, severe speech delay, and distinctive facial features. Approximately half of individuals with Kleefstra syndrome also have cardiac defects. The article presents a case report of a woman who was diagnosed with Kleefstra syndrome prenatally at 16 weeks. The fetus had pulmonary atresia with intact ventricular septum, which is a rare condition. The article highlights the importance of early fetal echocardiography and genetic testing in cases of structural abnormalities detected on ultrasound.
- Subjects
PULMONARY atresia; VENTRICULAR septum; FOUR-dimensional imaging; FETAL echocardiography; SYNDROMES; GENETIC testing
- Publication
Ultrasound in Obstetrics & Gynecology, 2023, Vol 62, Issue 6, p914
- ISSN
0960-7692
- Publication type
Article
- DOI
10.1002/uog.27443