Omphalocele major with absent lower limb

Area of Science:

• Medical Science
• Pediatrics
• Neonatology

Background:

• Congenital abdominal wall defects are rare but serious conditions.
• Omphalocele, a defect of the anterior abdominal wall, can occur with other malformations.
• Limb reduction defects, such as amelia, present significant challenges in neonates.

Purpose of the Study:

• To report a case of a rare combination of omphalocele major and amelia.
• To describe the initial clinical presentation and diagnostic considerations.
• To outline the initial management strategy for this complex neonate.

Main Methods:

• Case report of a neonate delivered via Caesarian section.
• Clinical examination to assess abdominal wall defect, limb anomalies, and other systems.
• Initial conservative management of the omphalocele sac.

Main Results:

• The neonate presented with omphalocele major (visible abdominal organs covered by a membrane) and amelia (absence of limbs).
• Associated findings included absence of the left lower limb and right foot fusion defect.
• The neonate was hemodynamically stable with normal anal opening and passage of meconium.
• No genito-urinary abnormalities were detected.

Conclusions:

• Omphalocele major with amelia is a severe congenital anomaly requiring careful multidisciplinary management.
• Initial conservative treatment of the omphalocele sac can be employed while further surgical planning occurs.
• Early diagnosis and management are crucial for improving outcomes in neonates with complex congenital defects.