Primary congenital pulmonary hypoplasia—genetic component to aetiology

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 i...

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Bibliographic Details
Published inPediatric anesthesia Vol. 7; no. 4; pp. 329 - 333
Main Authors CREGG, NUALA, CASEY, WILLIAM
Format Journal Article
LanguageEnglish
Published Oxford, UK Blackwell Science Ltd 01.01.1997
Subjects
Consanguinity
Cyanosis - congenital
Disease Progression
Dyspnea - congenital
Fatal Outcome
Female
Fetal Organ Maturity
genetic aetiology
Genetics
Humans
Infant, Newborn
Lung - abnormalities
Lung - embryology
Mediastinal Emphysema - congenital
Pneumothorax - congenital
primary congenital pulmonary hypoplasia
Respiratory Distress Syndrome, Newborn - etiology
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Summary: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.
Bibliography:ObjectType-Case Study-2
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ISSN:1155-5645
1460-9592
DOI:10.1046/j.1460-9592.1997.d01-81.x