A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities

Hum Genet. 1979;50(1):65-70. doi: 10.1007/BF00295591.


Two female sibs are reported with a possibly new lethal malformation pattern, the major anomalies of which are: coarse face with small eyes and cloudy corneae, cleft soft palate, hypoplasia and absence of lobulation of both lungs, diaphragmatic defects, digitalisation of thumbs and distal limb deformities.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Corneal Opacity / genetics*
  • Diaphragm / abnormalities*
  • Face
  • Female
  • Fingers / abnormalities*
  • Genes, Lethal*
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Polyhydramnios
  • Pregnancy
  • Syndrome