Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and management.
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.
Heim
P
P
Department of Paediatrics, University of Hamburg, Germany.
Raghunath
M
M
Meiss
L
L
Heise
U
U
Myllylä
R
R
Kohlschütter
A
A
Steinmann
B
B
D000293:Adolescent; D001706:Biopsy; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D008240:Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / Q000378:metabolism; D012867:Skin / Q000378:metabolism / Q000473:pathology
D008240:Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase