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Prenatal diagnosis of isolated congenital pyloric atresia in a sibling
Author(s) -
Usui Noriaki,
Kamiyama Masafumi,
Kimura Takuya,
Kamata Shinkichi,
Nose Keisuke,
Fukuzawa Masahiro
Publication year - 2013
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.2012.03620.x
Subject(s) - medicine , polyhydramnios , pyloroplasty , sibling , atresia , prenatal diagnosis , epidermolysis bullosa , pylorus , fetus , gestation , pediatrics , ultrasonography , stomach , obstetrics , surgery , pregnancy , dermatology , psychology , developmental psychology , genetics , biology
Although familial occurrence of congenital pyloric atresia (CPA) has been frequently reported in the past, many of these cases were associated with epidermolysis bullosa (EB), and familial isolated CPA was a relatively rare condition. We prenatally diagnosed and successfully treated a sibling of a subject with isolated CPA, who was diagnosed prenatally by fetal ultrasonography based on the findings of a distended stomach combined with polyhydramnios. The first case was a 2398‐g female infant born at 36 weeks of gestation, who had been prenatally diagnosed as CPA. The second case, a younger sister of the first case, was a female infant weighing 2434 g, who had been also diagnosed as CPA by fetal ultrasonography at the check‐up for the polyhydramnios of the same mother. Neither of the infants showed dermal lesions such as EB, and both underwent pyloroplasty with an excision of the pyloric membrane successfully after birth.