All issues > Volume 34(12); 1991

Original Article

J Korean Pediatr Soc. 1991;34(12):1717-1723. Published online December 31, 1991.

A case of type VI Ehlers-Danlos syndrome.

Ki Soo Pai¹, Young Mi Chung¹, Ran Namgung¹, Chul Lee¹, Dong Gwan Han¹

¹Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea

Received: June 21, 1991;  Accepted: August 24, 1991.

Abstract

Ehlers-Danlos syndrome is an inherited hetergenous disorder of connective tissue with characteris- tic clinical manifestations. In this article, a case of Ehlers-Danlos syndrome is presented. A nine months old female was admitted due to developmental delay. On physical examination, she had soft velvety skin and corneal opacity. Both hip joints were positive for Barlow test. There was hyper- mobility of both knee and elbow joints. Bone X-ray showed delayed ossification centers for long bones and bilateral hip dislocation. Biopsy of the skin showed dermal hypertrophy. The diagnosis was confirmed by aminoacid analysis of skin biopsy which revealed a profound deficiency of hydrox- ylysine. A brief review of related literature was made.

Keywords :Type VI Ehlers-Danlos syndroem;Hydroxylysine deficiency;Corneal opacity