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Ulnar agenesis and endocardial fibroelastosis
1Department of Pediatrics, University of Manitoba, Winnipeg, Canada.
American Journal of Medical Genetics
|October 1, 1990
Insights
This study describes an infant with multiple congenital anomalies, including limb malformations and hydrops fetalis. Parental consanguinity suggests a potential new autosomal recessive multiple congenital anomalies syndrome.
Area of Science:
- Medical Genetics
- Pediatric Cardiology
- Developmental Biology
Background:
- Multiple congenital anomalies (MCA) syndromes present complex diagnostic challenges.
- Endocardial fibroelastosis (EFE) is a rare cardiac condition affecting infants.
- Limb malformations, such as ulnar agenesis and radial hypoplasia, can occur in isolation or as part of MCA syndromes.
Abstract:
We report on an infant with bilateral ulnar agenesis, radial hypoplasia, oligodactyly, hydrops fetalis, and endocardial fibroelastosis (EFE). The presence of the 2 major malformations and parental consanguinity suggests the possibility of a new autosomal recessive MCA syndrome.