Keywords
Lung hypoplasia
Urinary malformation
Rare case
Categories
Date
- Submitted: Jul 5, 2025
- Published: Oct 7, 2025
How to Cite
Abstract
The VACTERL association is a rare group of birth defects, including vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb defects, with an incidence of 1 in 10,000 to 40,000 live births. Infants with lung hypoplasia and urinary malformations face significant challenges. VACTERL requires three or more defects for diagnosis, with unclear causes possibly linked to genetic and environmental factors, including consanguinity. While pulmonary and genitourinary anomalies are not typical, they can coexist. This case is unique due to epispadias and bladder inversion, differing from typical urinary anomalies. We present a 20-month-old infant diagnosed with VACTERL along with left lung hypoplasia, bladder inversion, and epispadias. This rare case is the first documented in Syria, emphasizing the importance of recognizing VACTERL variations. Identifying such cases aids in understanding the condition’s complexity and guiding better management strategies.
References
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Copyright (c) 2025 Abbas Al Bazzal, Mohammad Ali Mtairek, Rafaa Dayyoub, Rawan Nahle, Zahraa Nehme, Lina Khouri, Mahdi Akouch, Hiba Hamdar