Asplenia syndrome and isolated total anomalous pulmonary venous connection in siblings.
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.
Devriendt
K
K
Department of Paediatrics, University Hospital Leuven, Belgium.
Casaer
A
A
Van Cauter
A
A
de Zegher
F
F
Dumoulin
M
M
Gewillig
M
M
Devlieger
H
H
D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities* / Q000098:blood supply; D008297:Male; D010375:Pedigree; D012857:Situs Inversus / Q000150:complications / Q000235:genetics*; D013154:Spleen / Q000002:abnormalities*; D013577:Syndrome