Sibs with acrocephalopolydactylous dysplasia (Elejalde Syndrome) in a non-consanguineous family

Charles O. Onyeama*, Michael Lotke, Dennis Vickers, Terence Harper

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Acrocephalopolydactylous dysplasia, (Elejalde syndrome) is a rare condition; only six cases have been reported to date. We describe two infants born with Elejalde syndrome (ES); compare the clinical, pathological, and histological findings with those of known cases of Elejalde syndrome. The post-mortem histology study of the skin shows hyperplasia of connective tissues, a diagnostic sign in this condition. We describe cardiomegaly, cleft palate, and cryptorchidism not reported previously.

Original languageEnglish (US)
Pages (from-to)140-144
Number of pages5
JournalFetal and Pediatric Pathology
Volume31
Issue number3
DOIs
StatePublished - Jun 2012

Keywords

  • Acrocephalopolydactylous dysplasia
  • Elejalde syndrome (ES)
  • Multiple congenital anomalies

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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