Asplenia syndrome and isolated total anomalous pulmonary venous connection in siblings

K Devriendt; A Casaer; A Van Cauter; F de Zegher; M Dumoulin; M Gewillig; H Devlieger

doi:10.1007/BF01954484

Asplenia syndrome and isolated total anomalous pulmonary venous connection in siblings

Eur J Pediatr. 1994 Oct;153(10):712-4. doi: 10.1007/BF01954484.

Authors

K Devriendt¹, A Casaer, A Van Cauter, F de Zegher, M Dumoulin, M Gewillig, H Devlieger

Affiliation

¹ Department of Paediatrics, University Hospital Leuven, Belgium.

PMID: 7813525
DOI: 10.1007/BF01954484

Abstract

We report on a family with asplenia syndrome in one and total anomalous pulmonary venous connection (TAPVC) in the other sib. Both conditions are rare, may have a genetic cause and belong to a spectrum of laterality disorders. This suggests that both asplenia syndrome and TAPVC in this family are the clinical expression of a single genetic disorder.

Publication types

Case Reports

MeSH terms

Heart Defects, Congenital / genetics
Humans
Infant
Infant, Newborn
Lung / abnormalities*
Lung / blood supply
Male
Pedigree
Situs Inversus / complications
Situs Inversus / genetics*
Spleen / abnormalities*
Syndrome