title: Pyloric atresia and epidermolysis bullosa letalis: a lethal combination in two premature newborn siblings.
abstract: Pyloric atresia and epidermolysis bullosa letalis are rare congenital anomalies. The association of the two diseases in siblings has not been reported previously. This paper describes such as association in two newborn infants of caucasian parents with no family history of similar anomalies. Problems in management included severe fluid and electrolyte losses, systemic infection, and prematurity, which led to the death of the two infants. The question is raised whether the two abnormalities are expressions of closely linked genes. The presence of epidermolysis bullosa should alert the pediatrician to the possiblity of a coexisting pyloric atresia.
mesh_terms: D004820:Epidermolysis Bullosa / Q000150:complications* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000150:complications* / Q000235:genetics; D008297:Male; D011708:Pylorus / Q000002:abnormalities*