The de Barsy syndrome

被引:0
作者
Arazi, M [1 ]
Kapicioglu, MIS [1 ]
Mutlu, M [1 ]
机构
[1] Selcuk Univ, Fac Med, Dept Orthoped Surg & Traumatol, Konya, Turkey
关键词
de Barsy syndrome; hypermobility; elastin; cutis laxa; children;
D O I
暂无
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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.
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收藏
页码:79 / 84
页数:6
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