Ehlers-Danlos Syndrome Type VI (EDS VI):: Problems of diagnosis and management

被引：14

作者：

Heim, P

Raghunath, M

Meiss, L

Heise, U

Myllylä, R

Kohlschütter, A

Steinmann, B

机构：

[1] Univ Hamburg, Dept Paediat, D-20246 Hamburg, Germany

[2] Univ Hamburg, Dept Orthopaed, D-20246 Hamburg, Germany

[3] Univ Zurich, Dept Paediat, Div Metab & Mol Dis, Zurich, Switzerland

[4] Oulu Univ, Dept Biochem, Oulu, Finland

来源：

ACTA PAEDIATRICA | 1998年 / 87卷 / 06期

关键词：

hydroxylysine deficiency; joint laxity; skin hyperextensibility; spinal fusion;

D O I：

10.1080/080352598750014184

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Ehlers-Danlos Syndrome Type VI (EDS VI) is a rare autosomal recessively inherited connective tissue disorder, which poses several problems of diagnosis and management. We report on a patient who developed severe kyphoscoliosis long before the diagnosis was reached. We conclude that early biochemical diagnosis and a timely operative procedure by extensive posterior instrumentation is; the basis for successful management of this disorder.

引用

页码：708 / 710

页数：3