Elejalde syndrome: a case report

Am J Med Genet. 1997 Apr 14;69(4):406-8. doi: 10.1002/(sici)1096-8628(19970414)69:4<406::aid-ajmg13>3.0.co;2-r.


Elejalde syndrome is a rare condition comprising a high birth weight, swollen globular body, a short neck with redundant skin folds, postaxial polydactyly, omphalocele, enlarged liver and kidneys, and renal dysplasia. The syndrome, also known as acrocephalopolydactylous dysplasia, is thought to be an autosomal recessive trait. We report on a liveborn infant with this condition.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple* / pathology
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Syndrome