Clinical ConferencePremature twins with skin lesions and gastric outlet obstruction
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Cited by (5)
A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation
2018, Journal of PediatricsCitation Excerpt :Even though pyloric atresia can be seen in association with all types of EB, JEB is the most commonly reported subtype of the disease that occurs in combination with PA.3 Pyloric atresia may be suspected on antenatal ultrasound or with onset of nonbilious emesis after the first feed.10,11 Postmortem studies of patients with JEB-PA have also shown mucosal erosion of the gastrointestinal, genitourinary, and respiratory tracts.10-13 Diagnosis of JEB is typically confirmed with biopsy of a fresh blister sent for immunofluorescence antigen mapping.
Gastric outlet obstruction and epidermolysis bullosa
1997, Journal of the American Academy of DermatologyPrenatal detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein
1993, American Journal of Medical Genetics
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