Long term follow up of a woman with classic form of Ehlers-Danlos syndrome associated with rare manifestations and review of the literature.
We present the case of a 46 year-old woman with the classic type of Ehlers-Danlos syndrome who developed the rare manifestations of colon diverticula and mitral valve prolapse. We emphasize on clinical features and complications associated to this type of the syndrome, which gradually developed in our patient. A review of the literature referring to the epidemiology, molecular basis and manifestations of the classic type Ehlers-Danlos syndrome is also discussed.
Kitsiou-Tzeli
S
S
Department of Medical Genetics, Athens Medical School, Choremeio Research Laboratory, Children's Hospital Aghia Sophia, Athens, Greece. skitsiou@med.uoa.gr
Leze
E
E
Salavoura
K
K
Giannatou
E
E
Fretzayas
A
A
Makrithanasis
P
P
Kanavakis
E
E
D004241:Diverticulum, Colon; D004535:Ehlers-Danlos Syndrome / Q000145:classification / Q000235:genetics; D005260:Female; D006801:Humans; D008875:Middle Aged; D008945:Mitral Valve Prolapse