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An Autosomal Recessive Syndrome

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

Am J Dis Child. 1983;137(5):449-451.

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.

(Am J Dis Child 1983;137:449-451)

Author Affiliations
From the Departments of Pediatrics (Dr Bull), Dermatology (Dr Norins), Medical Genetics (Dr Weaver), Pediatric Surgery (Dr Weber), and Urology (Dr Mitchell), Indiana University School of Medicine and James Whitcomb Riley Hospital for Children, Indianapolis.

Footnotes
Reprint requests to Department of Pediatrics, Indiana University School of Medicine, 1100 W Michigan St, Indianapolis, IN 46223 (Dr Bull).

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