Ehlers-Danlos Syndrome

Ehlers--Danlos Syndrome with Congenital Herniae and Pigeon Breast

“…Many other abnormalities have been reported in association with this syndrome, including lenticular opacities (Johnson and Falls, 1949); molluscoid and raisin-like tumours (Ronchese, 1936); hard, freely mobile subcutaneous nodules (Shaw and Hopkins, 1912;Weber and Aitken, 1938); redundant knuckle pads over the toes and tumour-like formations at points of friction (Ross and Dooneief, 1957); pectusexcavatum (Smith and Hornisher, 1954) ; hyperelastic mucous membrane (Gilbert-Dreyfus et al, 1936); friable mucosa of sigmoid colon and radiologically demonstrable diverticula of intestine (Jacobs, 1957). Holt (1946) demonstrated radiologically calcification of the subcutaneous nodules.…”

“…The joint instability can cause subluxations, dislocations, sprains, and a tendency to fall on walking which may lead to repeated fractures, as observed by Johnson and Falls (1949).…”

“…Coe and Silvers (1940) reported affection of four generations. Johnson and Falls (1949), in a comprehensive study, reported a family pedigree covering six generations, with 21 men and 11 women affected. It has been suggested by Benjamin and Weiner (1943) and others that some disturbance in the embryonic mesenchyme may be responsible for the anomalies of the skin, which is of ectodermal origin, and of the capsules and ligaments of the joints, which are of mesodermal origin.…”

Repair of Cardiac Defect in Patient with Ehlers--Danlos Syndrome and Deficiency of Hageman Factor

“…A number of surgical procedures have been carried out on these patients. These include amputation of a leg (Johnson and Falls, 1949), lens extraction (Thomas et al, 1954), appendicectomy (Packer and Blades, 1954), bone grafting (Saemundsson, 1956), skin grafting (Ricketson, 1957), and thoracoplasty (Ross and Dooneief, 1957). Difficulties sometimes encountered during operation were caused by the friability of the tissues, which allowed skin sutures to tear out and haemostats to drop off.…”

“…The syndrome is transmitted as a Mendelian dominant character and has often been observed together with other anomalies (Johnson and Falls, 1949;Summer, 1956;Macfarlane, 1959;Zaidi, 1959). McKusick (1959) has stressed how little knowledge we have of the visceral abnormalities which may occur in this condition.…”