Renal agenesis as a diagnostic feature of the cryptophthalmos-syndactyly syndrome

Clin Genet. 1984 Jun;25(6):528-32. doi: 10.1111/j.1399-0004.1984.tb00496.x.

Abstract

Four families with the cryptophthalmos-syndactyly syndrome are reported. Nine affected patients died in perinatal period. Autopsy, performed in 6 cases, revealed renal agenesis (bilateral in 3 and unilateral in 3 cases). These observations together with recent literature data suggest that renal malformations (agenesis or severe hypoplasia) are one of the most common features of the cryptophthalmos-syndactyly syndrome and may serve as one of diagnostic criteria for this entity.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Eyelids / abnormalities*
  • Female
  • Fetal Death / genetics
  • Humans
  • Infant, Newborn
  • Kidney / abnormalities*
  • Male
  • Pregnancy
  • Syndactyly / genetics*
  • Syndrome