Fetal diagnosis and therapy · 2016
Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases.
СтатьяНазвание и аннотация: Перевод в очереди
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Mallmann Michael Rudolf, Reutter Heiko, Müller Annette Margarete, Geipel Annegret, Berg Christoph, Gembruch Ulrich
Аннотация
OBJECTIVE: The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare variant of the bladder exstrophy epispadias complex with in most cases unknown etiology. Due to the rarity of the disease, no large series exist that describe the prenatal spectrum of disease or additional malformations.
METHODS: In this study, we present the prenatal findings in a series of 12 cases.
RESULTS: All fetuses showed exstrophy of the bladder, 9/12 omphalocele, 9/12 anal atresia, 10/12 neural tube defects, 4/12 vertebral defects, 5/12 lower extremity defects including clubfeet, and 4/12 a single umbilical artery. Additional malformations included hydrocephalus, hypertelorism, aplasia of the gall bladder, heart defects and kidney malformations. All karyotyped fetuses (11/11) showed a normal karyotype.
CONCLUSIONS: These findings illustrate the spectrum of disease in prenatal diagnosis.
METHODS: In this study, we present the prenatal findings in a series of 12 cases.
RESULTS: All fetuses showed exstrophy of the bladder, 9/12 omphalocele, 9/12 anal atresia, 10/12 neural tube defects, 4/12 vertebral defects, 5/12 lower extremity defects including clubfeet, and 4/12 a single umbilical artery. Additional malformations included hydrocephalus, hypertelorism, aplasia of the gall bladder, heart defects and kidney malformations. All karyotyped fetuses (11/11) showed a normal karyotype.
CONCLUSIONS: These findings illustrate the spectrum of disease in prenatal diagnosis.