J Korean Soc Neonatol.
2005 Nov;12(2):222-226.
A Case of Beals-Hecht syndrome
- Affiliations
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- 1Department of Pediatrics, College of Medicine, Inje University, Busan, Korea. pedsin@inje.ac.kr
Abstract
- Beals-Hecht syndrome, also known as congenital contractural arachnodactyly, is a rare autosomal dominant, connective tissue disorder characterized by congenital joint contractures, arachnodactyly, dolichostenomelia, crumpled ear, and kyphoscoliosis. We report a case of Beals-Hecht syndrome in a 4 days old female newborn baby, associated with congenital knee and elbow joint contractures, arachnodactyly, dolichostenomelia, crumpled ear, and 4 umbilical arteries, with brief review of the related literatures.
