A Case of Beals-Hecht syndrome.

Bae,  Won Jin; Choi,  Eun Kyoung; Sin,  Jong Beom

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Case Report

Journal of the Korean Society of Neonatology 2005;12(2):222-226.
Published online November 1, 2005.

A Case of Beals-Hecht syndrome.

Won Jin Bae, Eun Kyoung Choi, Jong Beom Sin

Department of Pediatrics, College of Medicine, Inje University, Busan, Korea. pedsin@inje.ac.kr

Beals-Hecht 증후군 1례

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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.

Key Words: Beals-Hecht syndrome; Congenital Contractural arachnodactyly

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