Epidermolysis Bullosa—Pyloric Atresia: An Autosomal Recessive Syndrome

Marilyn J. Bull, Arthur L. Norins, David D. Weaver, Thomas Weber, Michael Mitchell

Research output: Contribution to journalArticle

46 Scopus citations

Abstract

A sister and brother each had epidermolysis bullosa and pyloric atresia at birth. Both died in early infancy of complications related to epidermolysis bullosa. Electron microscopic studies of skin biopsy specimens disclosed findings consistent with a diagnosis of epidermolysis bullosa letalis. The existence of epidermolysis bullosa—pyloric atresia syndrome as a distinct clinical entity with autosomal recessive inheritance is supported by the findings in these patients.

Original languageEnglish (US)
Pages (from-to)449-451
Number of pages3
JournalAmerican Journal of Diseases of Children
Volume137
Issue number5
DOIs
StatePublished - May 1983

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Epidermolysis Bullosa—Pyloric Atresia: An Autosomal Recessive Syndrome'. Together they form a unique fingerprint.

  • Cite this