Vascular Ehlers-Danlos syndrome (vEDS) is caused by dysfunctional COL3A1 gene for type III procollagen. It presents with translucent skin, easy bruising, and arterial dissection. has the worst prognosis among various types of EDS hollow-organ rupture as leading cause death, mounting to median life expectancy mid-40s. We report a rare case vascular presenting late in fifth decade multiple dissec...

A patient with marfanoid habitus wasadmitted to the General Hospital, Kuala Lumpur in October 1985 for surgical closure of an atrial septal defect. He was suspected to have Marfan Syndrome but there was no involvement of the aorta nor the eye. The clinical features were intermediate between that of the Marfan Syndrome and the Ehler's Danlos Syndrome. It is suggestedthat this could be a separate...

Ehlers-Danlos syndrome is a rare hereditary disease of the connective tissue which can present oral manifestations. A brief history of the disease is presented along with the epidemiology and characteristics of the 8 main phenotypes of the syndrome. The article also describes the case of a 12-year-old patient presenting with hypermobility of the temporo-mandibular joint and capillary fragility,...

Dear Sir, The early identification of hereditary syndromes is essential for planning medical and surgical interventions for reducing the risk of complications [1]. Unfortunately, clinical phenotypes of hereditary syndromes in the first years of life and in mild cases are often poorly characterized. Some disease symptoms are also common to several different genetic conditions. Cleidocranial dysp...

INTRODUCTION We report a unique surgical treatment for external coxa saltans refractory to previous open and endoscopic management in a patient with Ehlers–Danlos syndrome. After failure of two endoscopic iliotibial band (ITB) lengthenings and one open gluteus maximus (GMax) lengthening, a novel procedure was conducted, which involved release of the GMax insertion and tenodesis of the anterior ...

A 9 year old Libyan boy presented with a history of delayed walking and abnormal gait. The presence of marked muscle under-development with hypotonia led to the initial diagnosis of primary muscle disease; later, he was found to have hyperelastic, fragile skin and hypermobile joints-the cardinal features of Ehlers Danlos syndrome. In this instance the disease seems to have been inherited in an ...

Cervical artery dissection (CeAD) is a rare condition. One of the causes is the vascular type of Ehlers-Danlos syndrome (vEDS). A novel missense mutation in COL3A1 was found in a young patient with CeAD as the single manifestation of vEDS. This is a heterozygous c.953G > A mutation in exon 14, disrupting the normal Gly-X-Y repeats of type III procollagen, by converting glycine to aspartic acid.

There have been several reports of cardiac abnormalities in patients with the Ehlers-Danlos syndrome, but it is not certain whether these anomalies are part of the syndrome or whether they represent chance concomitants (McKusick, 1966). In an investigation in Southern England, 100 patients with this syndrome have been examined. The results of this survey, from the cardiac point of view, are pre...