Laryngeal atresia sequence as part of the DiGeorge developmental field defect.
The subject of the present report is a male newborn with laryngeal atresia (LA) type I, giving rise to a malformation sequence consisting of overdistended polyalveolar lungs and nonimmune fetal hydrops with massive ascites. The infant was chromosomally normal and the first child of consanguineous parents. Retention of liquid secreted by the fetal lungs in utero was the pathogenetic mechanism, responsible for the LA sequence. The LA was part of a complex constellation of anomalies, compatible with the DiGeorge developmental field defect.
Moerman
P
P
Department of Pathology I, Katholieke Universiteit Leuven, Belgium.
de Zegher
F
F
Vandenberghe
K
K
Devlieger
H
H
Petit
P
P
Lauweryns
J M
JM
Fryns
J P
JP
D001238:Asphyxia Neonatorum / Q000473:pathology; D003241:Consanguinity; D004062:DiGeorge Syndrome / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000235:genetics* / Q000473:pathology; D007830:Larynx / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D012137:Respiratory System / Q000473:pathology