Fraser syndrome: Affected siblings born to nonconsanguineous parents and diagnosed at autopsy

Ann De Jong, Miranda Warren, William Rehrauer, Josephine Harter, Melissa Baraboo, Sunita Chandra, Richard M. Pauli, Don B. Singer, And Michael K Fritsch*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Fraser syndrome (MIM #219000) is a rare genetic disorder with major features including cryptophthalmos, syndacryly, and genital anomalies. We report 2 independently autopsied children of the same nonconsanguineous parents. The siblings exhibit similar clinical features, all of which are consistent with a diagnosis of Fraser syndrome. The gross and microscopic findings provide insight into the highly variable clinical presentation of Fraser syndrome. Molecular diagnostic studies of the index case failed to identify one of the known gene mutations in the FRAS1 and FREM2 genes associated with Fraser syndrome. This raises the possibility that other genes or undetected mutations in the FRAS1/ FREM2 genes may cause Fraser syndrome.

Original languageEnglish (US)
Pages (from-to)220-225
Number of pages6
JournalPediatric and Developmental Pathology
Volume11
Issue number3
DOIs
StatePublished - May 1 2008

Keywords

  • Autosomal
  • Cryptophthalmos
  • Fraser syndrome
  • Syndactyly

ASJC Scopus subject areas

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

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