The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.

@article{Salonen1981TheHS,
  title={The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.},
  author={Riitta Salonen and Riitta Herva and Reijo Norio},
  journal={Clinical genetics},
  year={1981},
  volume={19 5},
  pages={
          321-30
        }
}
We describe a lethal malformation syndrome in 28 newborn infants from 18 families. The main manifestations were hydrocephalus (often with an unusual structure of the brain and the occipital bone), very small mandible, polydactyly, congenital heart defect, abnormalities of the respiratory organs, and (different from the Meckel syndrome) normal kidneys. Polyhydramnios and stillbirth or neonatal death were the rule. Autosomal recessive inheritance is evident. This syndrome is another in the group… CONTINUE READING
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