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Omphalocele, Exstrophy of Bladder, Imperforate Anus and Spinal Defect Complex with Genital Anomalies in a Late

Faisal Othman Al-Qurashi1, Thammer Saad Al-Hareky1, Hussah Mohammed Al-Buainain2

  • 1Department of Pediatrics, University of Dammam-King Fahd Hospital of the University, Al Khobar, Saudi Arabia.

Saudi Journal of Medicine & Medical Sciences
|February 22, 2019
PubMed

Insights

This case report details a rare Omphalocele, exstrophy of the bladder, imperforate anus and spinal defect (OEIS) complex in a newborn. The report highlights potential risk factors and the complex

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Pediatric Surgery

Background:

  • The Omphalocele, exstrophy of the bladder, imperforate anus and spinal defect (OEIS) complex is a rare congenital anomaly.
  • First described in 1978, it involves disruptions in embryonic body wall development.
  • Understanding OEIS complex is crucial for early diagnosis and management.

Observation:

  • A case of OEIS complex was identified in a 36-week gestation infant.
  • The infant presented with OEIS complex and additional genital anomalies.
  • Maternal history included consanguinity and early oral contraceptive pill use.

Findings:

  • The neonatal examination confirmed findings consistent with OEIS complex.
  • The infant required multiple surgical procedures for treatment.
  • Genital anomalies were also noted in the affected infant.

Implications:

  • This case may inform understanding of OEIS complex risk factors.
  • It illustrates the phenotypic variability within OEIS complex.
  • Highlights the need for comprehensive management in affected infants.

Keywords:
Cloacal exstrophyexstrophy of the bladderomphalocele

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