Background: Congenital pyloric atresia (CPA) is a rare gastrointestinal anomaly frequently associated with epidermolysis bullosa (EB). Although the complications of familial isolated CPA are minor, delays in diagnosis can increase the chances of morbidity.
Case presentation: Three female infants born to a Japanese mother presented with CPA at birth. There was no consanguinity between the parents, and the spacing between pregnancies was 2 years in each case. All 3 siblings had a prenatal diagnosis of CPA owing to polyhydramnios and a dilated stomach, without dilatation of the rest of the gastrointestinal tract. All patients underwent reconstructive surgeries for establishing bowel continuity (Case 1, pyloromyotomy; Case 2, gastroduodenostomy in a diamond fashion; and Case 3, gastroduodenostomy in a side-to-side fashion) soon after birth. Their postoperative courses were uneventful, and they grew up healthily, without any complications.
Conclusion: Fetal ultrasonography is useful for diagnosing CPA prenatally. Successful prenatal diagnosis can lead to timely intervention after birth.
Keywords: Congenital pyloric atresia; Familial; Prenatal diagnosis.