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Arch Otolaryngol Head Neck Surg. 2003;129:597.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Diagnosis: Ehlers-Danlos syndrome (EDS) type IV, vascular form

Heritable disorders of collagen include EDS (9 types are currently known); EDS type IV, the vascular form, represents 4% of all EDS cases¹ and is the most malignant kind of EDS, being the only type associated with an increased risk of death.² It is uncommon (the precise incidence and prevalence are not known).³

It can be inherited in an autosomal dominant fashion, although 50% of the cases are secondary to spontaneous mutations. There is a biochemical defect in the gene that codes for type III procollagen, which is a major component of distensible tissues such as skin, artery walls, and hollow viscera. The responsible allele, COL3A1, is located on chromosome 2.¹ The patients with EDS type IV can develop spontaneous blood vessel rupture as a result of aneurysms, dissections, and transmural tears (more frequently involving the thoracic or abdominal arteries).³ Other fatal complications include hollow viscera rupture (commonly of . . . [Full Text of this Article]

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Arch Otolaryngol Head Neck Surg. 2003;129(5):595.
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