Bart syndrome with associated anomalies

Bruce J. Bart, Richard C. Lussky

Research output: Contribution to journalReview articlepeer-review

8 Scopus citations

Abstract

Bart syndrome is an inherited condition characterized by epidermolysis bullosa and congenital absence of skin. It has been associated with other anomalies including pyloric atresia. The genetic abnormality has been linked to chromosome 3, with an autosomal dominant pattern of inheritance. We present a case of Bart syndrome that was associated with pyloric atresia. The literature is reviewed pertaining to this unusual association. Recommendations are offered regarding genetic counseling and anticipatory guidance for affected families.

Original languageEnglish (US)
Pages (from-to)365-369
Number of pages5
JournalAmerican Journal of Perinatology
Volume22
Issue number7
DOIs
StatePublished - Oct 1 2005

Keywords

  • Bart syndrome
  • Congenital absence of skin
  • Epidermolysis bullosa
  • Pyloric atresia

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