Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome

Am J Med Genet. 1994 Oct 1;52(4):427-31. doi: 10.1002/ajmg.1320520407.


We report on 2 sibs with the Fraser cryptophthalmos syndrome who had pulmonary hyperplasia and laryngeal stenosis. A third unrelated patient with Fraser syndrome had laryngeal stenosis, renal agenesis, and normal lung development, rather than the expected pulmonary hypoplasia. Three additional cases of pulmonary hyperplasia in the Fraser syndrome were ascertained from a review. In all of these cases the likely mechanism for pulmonary hyperplasia is retention of fetal lung fluid by laryngeal or tracheal obstruction.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / diagnostic imaging
  • Adult
  • Anophthalmos
  • Family Health
  • Female
  • Humans
  • Hyperplasia / complications
  • Hyperplasia / embryology
  • Hyperplasia / etiology
  • Kidney / abnormalities*
  • Laryngostenosis / complications*
  • Laryngostenosis / embryology
  • Lung / pathology*
  • Pregnancy
  • Ultrasonography