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- Title
Prenatal findings of hypertrophic cardiomyopathy in a severe case of Costello syndrome.
- Authors
Uemura, R.; Tachibana, D.; Kurihara, Y.; Pooh, R. K.; Aoki, Y.; Koyama, M.
- Abstract
The article presents a case study of a 26-year-old primigravida who was presented for detailed ultrasound assessment at 12 weeks of gestation with increased nuchal translucency thickness, small nasal bones and micrognathia. It explores the prenatal findings of hypertrophic cardiomyopathy (HCM) in a case of Costello syndrome (CS), a genetic disorder resulting from mutations in the HRAS gene. The findings provide information on the perinatal outcome of cases that should aid in genetic counseling.
- Subjects
FIRST pregnancy; ULTRASONIC imaging; GESTATIONAL age; MICROGNATHIA; HYPERTROPHIC cardiomyopathy; GENETIC counseling
- Publication
Ultrasound in Obstetrics & Gynecology, 2016, Vol 48, Issue 6, p799
- ISSN
0960-7692
- Publication type
case study
- DOI
10.1002/uog.15888