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...

There are intimate interrelations between various elements of connective tissue, viz. collagen, elastin, and glycoproteins. It is not unexpected that Marfan and Ehlers-Danlos syndromes share common features. The condition is labelled as Marfanoid hypermobility syndrome. In the patient described here, the Marfanoid hypermobility syndrome was associated with coarctation of the aorta which was cor...

objective ullrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development. in general it is inherited in autosomal recessive principles, however in the western world mostly seen with de novo dominant mutations in the collagen vi genes. milder form of the condition is the bethlem myopathy. there may be overlap ...

The case of a patient with visceroptosis and Ehlers-Danlos syndrome hypermobility type (RDS-HT) is reported here. The literature on this unusual but probably under-recognized complication is reviewed.

Twenty three patients with fragile X syndrome underwent cardiovascular assessment. Echocardiography showed dilatation of the aortic root in 12 (52%) and mitral valve prolapse in five (22%), four of whom had an apical mid-systolic click on auscultation. Patients with fragile X syndrome have cardiac defects similar to those seen in other disorders of connective tissue such as Marfan's syndrome an...

Death from arterial bleeding or gastrointestinal perforation has previously been reported in more than 15 patients with the Ehlers-Danlos syndrome. On a basis of 100 personally examined patients and a review of published accounts, these events seem particularly likely to occur in two distinct and recognizable forms (the gravis and the ecchymotic forms) of the syndrome.

Arterial dissection is uncommon in young adults and there are usually underlying causes. This report describes 2 young patients with vascular complications after trivial injury who were diagnosed to have Ehlers-Danlos syndrome. One patient died while the other remains in a stable condition. Early clinical recognition of this syndrome is necessary so as to prevent mortality and reduce morbidity.

Osteogenesis imperfecta, Ehlers-Danlos syndrome, and Marfan syndrome form a group of genetic disorders of connective tissue. These disorders exhibit remarkable clinical heterogeneity which reflects their underlying biochemical and molecular differences. Defects in collagen types I and III have been found in all three syndromes.