Omphalocele, exstrophy of bladder, imperforate anus and spinal defect (OEIS complex) - autopsy and prenatal ultrasound findings

ABSTRACT

Omphalocele, exstrophy of bladder, imperforate anus and spinal defect (OEIS complex) is a rare congenital anomaly with varied clinical presentation. A case report in a spontaneously aborted fetus of 20 weeks gestation and diagnosed on autopsy is discussed. External omphalocele sac, imperforate anus, kyphoscoliosis, ambiguous genitalia and bilateral congenital talipes were present. Omphalocele sac contained liver, coils of small intestine, spleen and stomach. The sac also contained right testis and right kidney. The presence of kidney and testis in the omphalocele sac is a very rare finding in this complex. Antenatal ultrasound at 18 weeks of gestation had demonstrated omphalocele, deformed spine, club feet, non-visualization of bladder and polyhydramnios. Imperforate anus could not be detected prenatally. Occasionally, Two-Dimensional (2-D) ultrasound (US) may fail to detect the full spectrum of the complex. For definitive and differential diagnoses, Three-Dimensional (3-D) ultrasound, color Doppler and fetal Magnetic Resonance (MR) can be used

RESUMEN

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