Two sisters with Ehlers-Danlos syndrome, inherited as an autosomal recessive trait, and congenital heart disease are herein reported. One was a 20-year-old woman with Ehlers-Danlos syndrome and multiple aphthous stomatitis, bronchial asthma, an emphysematous lung, a ventricular septal defect and a bilateral inguinal hernia due to hyperextensibility and joint hypermobility. The other was a 17-ye...

Rare Dis 2007;2:32. 2. Superti-Furga A, Gugler E, Gitzelmann R, Steinmann B. Ehlers-Danlos syndrome type IV: A multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. J Biol Chem 1988;263:6226-32. 3. Tsipouras P, Byers PH, Schwartz RC, Chu ML, Weil D, Pepe G, et al. Ehlers-Danlos syndrome type IV: Cosegregation of the phenotyp...

We report case of a subclavian artery pseudoaneurysm in a patient with type IV Ehlers-Danlos Syndrome. A 16-year-old boy underwent successful repair of a subclavian artery pseudoaneurysm that occurred after a cervical hyperextension injury. Subsequent workup included skin biopsy and fibroblast culture, which were consistent with a diagnosis of type IV Ehlers-Danlos Syndrome. This condition is a...

Correctional surgery was performed on a 3-year-old intact male shih tzu presenting with Ehlers-Danlos syndrome, ocular disease, and skin fold dermatitis. A one-year follow-up showed that no further clinical corrections were needed. Therefore, surgery could be considered in some canine patients with Ehlers-Danlos syndrome.

Patients who present with a co-existing connective tissue disorder add a degree of complexity to operative intervention. We present an unusual case of a 53-year-old Caucasian female patient with Ehlers Danlos syndrome who presented with an occult perforation of the distal ileum. The patient had known small bowel diverticulae yet the perforation occurred within the normal bowel wall. The pre-ope...

Ehlers-Danlos syndrome type IV (EDS IV) is caused by mutation within the COL3AI gene, resulting in the disorder of type III procollagen. The diagnosis is confirmed by demonstrating the synthesis of abnormal type III procollagen molecules from cultured dermal fibroblasts or by identifying the mutation in the COL3A1 gene. The authors report a case of EDS IV caused by a novel point mutation in the...

In the vascular type of Ehlers-Danlos syndrome there is a defect in the synthesis of collagen type III, important constituent of the blood vessel wall, which may cause arterial rupture and dissection. We report a 15-year-old girl with a history of Ehlers-Danlos syndrome, who suffered an ischemic stroke secondary to dissection of the right internal carotid artery. She was managed conservatively ...

A common finding in progressive osteoarthritis of the carpometacarpal joint of the thumb is ligamentous laxity. In patients with Ehlers-Danlos syndrome, which is a disorder characterized by generalized ligamentous laxity, splinting and arthrodesis have been recommended because of the random results achieved by other reconstructive procedures. We report a patient with thumb carpometacarpal joint...

Ehlers-Danlos syndrome has been divided into several different types according to the variety and severity of clinical manifestations, and may follow autosomal dominant, autosomal recessive, or X linked patterns of inheritance. Only rarely have chromosome anomalies been seen in patients manifesting phenotypic features of the syndrome and most are considered insignificant. However, one case repo...

The Ehlers-Danlos syndrome is an uncommon hereditary disorder of connective tissue. The main characteristics are joint hypermobility and skin hyperextensibility. Easy bruising, poor healing with wide gaping scars, and cardiovascular, gastrointestinal , orthopedic , and occular manifestations may also occur. The syndrome is considered heterogeneous [1] and different variants of the syndrome have...