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The de Barsy syndrome.

作者信息

Arazi M, Kapicioğlu M I, Mutlu M

机构信息

Department of Orthopedic Surgery and Traumatology, Selçuk University Faculty of Medicine, Konya, Turkey.

出版信息

Turk J Pediatr. 2001 Jan-Mar;43(1):79-84.

Abstract

We report a child with de Barsy syndrome, which is a very rare, genetically transmitted clinical entity associated with mental and growth retardation, severe cutis laxa, joint laxity and various ocular and skeletal system findings. The patient was operated to treat her orthopedic disabilities. Typical findings of this case with eight-year follow-up beginning from birth are described and compared with previously reported cases. The main aim of this paper was to describe the diagnostic and therapeutic difficulties of this rarely encountered syndrome.

摘要

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