Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome

Annick Raas-Rothschild, Zivanit Ergaz-Schaltiel, Jakob Bar-Ziv, Azaria J.J.T. Rein

Research output: Contribution to journalArticlepeer-review

Abstract

The Stuve-Wiedemann syndrome (SWS) is a congenital bone dysplasia characterized by camptodactyly with ulnar deviation and congenital bowing of the long bones. Affected patients present with respiratory difficulties in the neonatal period or later and recurrent episodes of hyperthermia. The typical radiological findings are bowing of the long bones of the lower limbs, wide metaphyses with decreased density, and abnormal trabecular pattern. Generally, respiratory insufficiency and hyperthermia are reported to be the cause of death. We report on two sibs with SWS, who died from severe pulmonary hypertension with pulmonary artery wall abnormality. We suggest a common pathophysiological process, which could explain the cardiovascular findings that we observed immediately after birth in the two affected sibs. We hypothesize that the severe pulmonary hypertension due to the arterial wall abnormality could explain the neonatal death of these two children.

Original languageEnglish
Pages (from-to)156-158
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume121 A
Issue number2
DOIs
StatePublished - 30 Aug 2003
Externally publishedYes

Keywords

  • Pulmonary hypertension
  • Pulmonary vascular disease
  • Stuve-Wiedemann syndrome

Fingerprint

Dive into the research topics of 'Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome'. Together they form a unique fingerprint.

Cite this