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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Published in | Pediatric anesthesia Vol. 7; no. 4; pp. 329 - 333 |
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Main Authors | , |
Format | Journal Article |
Language | English |
Published |
Oxford, UK
Blackwell Science Ltd
01.01.1997
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Subjects | |
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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. |
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AbstractList | 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. 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. |
Author | CREGG, NUALA CASEY, WILLIAM |
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SubjectTerms | 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 |
Title | Primary congenital pulmonary hypoplasia—genetic component to aetiology |
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