Spinal muscular atrophy type I combined with atrial septal defect in three sibs.

@article{Mller1990SpinalMA,
  title={Spinal muscular atrophy type I combined with atrial septal defect in three sibs.},
  author={P{\aa}l M{\o}ller and N Moe and Ola Didrik Saugstad and Kari Skullerud and M Velken and K. Berg and Sigurd Nitter-Hauge and A. L. B{\o}rresen},
  journal={Clinical genetics},
  year={1990},
  volume={38 2},
  pages={
          81-3
        }
}
All three children of an unrelated Norwegian couple were born with spinal muscular atrophy (SMA I) as confirmed by autopsy in two of them. Two of the children died at birth, whereas one lived for 7 weeks on support systems that included artificial ventilation. All three children had large atrial septal defects (ASD). One had valvular aortic stenosis. Another had arrhinencephaly and transient pleural effusion which was evacuated during pregnancy. The findings may reflect concurrence of unrelated… CONTINUE READING

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