P27.16: Prenatal Sonographic prediction of recurrence of congenital alveolar proteinosis: Hereditary surfactant protein B deficiency

Prenatal diagnosis of congenital alveola

Prenatal diagnosis of congenital alveolar proteinosis (surfactant protein B deficiency)

✍ Manfred Stuhrmann; Bettina Bohnhorst; Usha Peters; Rainer M. Bohle; Christian F. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 95 KB 👁 1 views

We report on the DNA-based prenatal diagnosis of congenital pulmonary alveolar proteinosis in a family in which alveolar proteinosis was associated with surfactant protein B (SP-B) deficiency. The parents had lost an eight-week-old female child due to this fatal disorder. The affected child was homo