Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome.

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.

• Authors: Annick Raas-Rothschild, Zivanit Ergaz-Schaltiel, Jakob Bar-Ziv, Azaria J J T Rein
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 121A Issue 2 Pg. 156-8 (Aug 30 2003) ISSN: 1552-4825 [Print] United States
• PMID: 12910496 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: Copyright 2003 Wiley-Liss, Inc.

Topics

• Bone and Bones (abnormalities, diagnostic imaging)
• Cardiovascular Abnormalities (complications, physiopathology)
• Consanguinity
• Fatal Outcome
• Female
• Fever (pathology)
• Humans
• Hypertension, Pulmonary (physiopathology)
• Infant, Newborn
• Lung
• Male
• Osteochondrodysplasias (diagnostic imaging, genetics, pathology)
• Pulmonary Artery (abnormalities, diagnostic imaging)
• Radiography
• Respiratory Insufficiency (pathology)
• Siblings
• Syndrome