A Rare of OEIS Variant Manifesting as Omphalocele, Anal Atresia, Scrotum Bifida, Cryptorchidism, and Hypospadias: A Case Report

Abstract

Omphalocele, exstrophy, imperforate anus, and spinal defects (OEIS) complex is a rare disorder results from abnormal midline development during early gestation and has a multifactorial etiology. We had a term male neonate with OEIS complex born to a 34-year-old G4P1A1 mother with a spontaneous conception and no notable medical or teratogenic history. Patient attended antenatal care four times with an obstetrician, and prenatal ultrasounds revealed an anterior abdominal wall defect suggestive of omphalocele. The patient underwent vaginal delivery at 37 weeks, resulting in a live male infant weighing 3200 g with Apgar scores of 4 and 8. Postnatal examination revealed a large omphalocele, absent anal opening, underdeveloped phallus, widely spaced scrotum with non-palpable testes, and no limb anomalies. Karyotyping showed a normal male chromosomal pattern. Surgical intervention, including exploratory laparotomy and colostomy, was performed on day 3 of life. Despite management, the neonate died at one month of age. OEIS complex has poor prognosis. Early prenatal diagnosis remains challenging but crucial. Multidisciplinary management, timely surgical intervention, and increased access to genetic counseling and antenatal care are essential to improve outcomes and support affected families.