Volume 87, Issue 6 pp. 708-710

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

P Heim

P Heim

Departments of Paediatrics, University of Hamburg, Hamburg, Germany

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M Raghunath

M Raghunath

Division of Metabolic and Molecular Diseases, Department of Paediatrics, University of Zürich, Zürich, Switzerland

Institute of Pathobiochemistry and Physiological Chemistry, University of Münster, Münster, Germany.

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L Meiss

L Meiss

Departments of Orthopaedics, University of Hamburg, Hamburg, Germany

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U Heise

U Heise

Departments of Orthopaedics, University of Hamburg, Hamburg, Germany

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R Myllylä

R Myllylä

Department of Biochemistry, University of Oulu, Oulu, Finland

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A Kohlschutter

Corresponding Author

A Kohlschutter

Departments of Paediatrics, University of Hamburg, Hamburg, Germany

A Kohlschütter, Department of Paediatrics, University of Hamburg, Martinistraβe 52, D-20246 Hamburg, GermanySearch for more papers by this author
B Steinmann

B Steinmann

Division of Metabolic and Molecular Diseases, Department of Paediatrics, University of Zürich, Zürich, Switzerland

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First published: 02 January 2007
Citations: 20

Abstract

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.

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