Article
Congenital alveolar proteinosis caused by a novel mutation of the surfactant protein B gene and misalignment of lung vessels in consanguineous kindred infants.
European journal of pediatrics - 1 Jun 1999
Wallot M, Wagenvoort C, deMello D, Müller K M, Floros J, Roll C
Abstract excerpt
UNLABELLED: Congenital alveolar proteinosis and misalignment of lung vessels are rare disorders. We report on five infants of consanguineous kindred. All infants were delivered at term after uneventful pregnancies. Shortly after birth they developed respiratory failure and severe persistent pulmo...
Topics
- Blood Vessels
- Consanguinity
- Fatal Outcome
- Female
- Humans
- Infant, Newborn
- Lung
- Male
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Proteolipids