A Case of Beals-Hecht syndrome.
- Author:
Won Jin BAE
1
;
Eun Kyoung CHOI
;
Jong Beom SIN
Author Information
1. Department of Pediatrics, College of Medicine, Inje University, Busan, Korea. pedsin@inje.ac.kr
- Publication Type:Case Report
- Keywords:
Beals-Hecht syndrome;
Congenital Contractural arachnodactyly
- MeSH:
Arachnodactyly;
Connective Tissue;
Contracture;
Ear;
Elbow Joint;
Female;
Humans;
Infant, Newborn;
Joints;
Knee;
Umbilical Arteries
- From:Journal of the Korean Society of Neonatology
2005;12(2):222-226
- CountryRepublic of Korea
- Language:Korean
-
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.
