Epidermolysis Bullosa—Pyloric Atresia

An Autosomal Recessive Syndrome

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

Research output: Contribution to journalArticle

46 Citations (Scopus)

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

Fingerprint

Epidermolysis Bullosa
Siblings
Junctional Epidermolysis Bullosa
Parturition
Electrons
Biopsy
Skin
Pyloric Atresia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Epidermolysis Bullosa—Pyloric Atresia : An Autosomal Recessive Syndrome. / Bull, Marilyn J.; Norins, Arthur L.; Weaver, David; Weber, Thomas; Mitchell, Michael.

In: American Journal of Diseases of Children, Vol. 137, No. 5, 1983, p. 449-451.

Research output: Contribution to journalArticle

Bull, Marilyn J. ; Norins, Arthur L. ; Weaver, David ; Weber, Thomas ; Mitchell, Michael. / Epidermolysis Bullosa—Pyloric Atresia : An Autosomal Recessive Syndrome. In: American Journal of Diseases of Children. 1983 ; Vol. 137, No. 5. pp. 449-451.
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