title: Primary congenital pulmonary hypoplasia--genetic component to aetiology.
abstract: Primary congenital pulmonary hypoplasia, defined as congenital pulmonary hypoplasia occurring in the absence of other congenital anomalies, is an exceedingly rare condition of unknown aetiology. We report on two cases that presented as severe progressive respiratory failure immediately after birth in siblings of a consanguinous marriage, and we postulate that a genetic aetiology may be responsible for the arrest of lung maturation in utero. The possibility of a genetic component to the aetiology has not been previously documented in the literature.
authors.affiliation: Department of Anaesthesia, Children's Research Centre, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
authors.forename: N
authors.initials: N
authors.lastname: Cregg
authors.forename: W
authors.initials: W
authors.lastname: Casey
mesh_terms: D003241:Consanguinity; D003490:Cyanosis / Q000151:congenital; D018450:Disease Progression; D004417:Dyspnea / Q000151:congenital; D017809:Fatal Outcome; D005260:Female; D005325:Fetal Organ Maturity; D005823:Genetics; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities* / Q000196:embryology; D008478:Mediastinal Emphysema / Q000151:congenital; D011030:Pneumothorax / Q000151:congenital; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology