Pediatr Radiol. 1999 Jan;29(1):19-22.

Vascular complications (splenic and hepatic artery aneurysms) in the occipital horn syndrome: report of a patient and review of the literature.

Mentzel HJ, Seidel J, Vogt S, Vogt L, Kaiser WA.

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Institute of Diagnostic and Interventional Radiology, University of Jena, Friedrich-Schiller-Universität Jena, Jena/Thüringen, Germany.

Abstract

We report an 18-year-old boy with occipital horn syndrome who developed aneurysms of the splenic and hepatic arteries. Occipital horn syndrome, also called X-linked cutis laxa or Ehlers-Danlos syndrome (EDS) type IX, is characterised by a skeletal dysplasia which includes occipital horns, broad clavicles, deformed radii, ulnae and humeri, narrow rib cage, undercalcified long bones and coxa valga. Distinctive features common to all patients are unusual facial appearance, hypermobility of finger joints, limitation of extension of elbows, chronic diarrhoea and genitourinary abnormalities. In this case report we describe the difficulties encountered in the diagnostic management of patients with EDS-related vascular lesions.

PMID:: 9880610; [PubMed - indexed for MEDLINE]

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Review Occipital horn syndrome: report of a patient and review of the literature. [Clin Genet. 1994]
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