Clinical Presentations and Diagnostic Imaging of VACTERL Association
Küçük Resim Yok
Tarih
2023
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Taylor & Francis Inc
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Background: VACTERL association consists of Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal, and Limb defects. The diagnosis depends on the presence of at least three of these structural abnormalities. Methods: The clinical presentation and diagnostic prenatal imaging of VACTERL association are comprehensively reviewed. Results: The most common feature is a vertebral anomaly, found in 60-80% of cases. Tracheo-esophageal fistula is seen in 50-80% of cases and renal malformations in 30% of patients. Limb defects including thumb aplasia/hypoplasia, polydactyly, and radial agenesis/hypoplasia are present in 40-50% of cases. Anorectal defects, like imperforate anus/anal atresia, are challenging to detect prenatally. Conclusion: The diagnosis of VACTERL association mostly relies on imaging techniques such as ultrasound, computed tomography, and magnetic resonance. Differential diagnosis should exclude similar diseases such as CHARGE and Townes-Brocks syndromes and Fanconi anemia. New insights into genetic etiology have led to recommendations of chromosomal breakage investigation for optimal diagnosis and counseling.
Açıklama
Anahtar Kelimeler
VACTERL association, prenatal diagnosis, ultrasound, fetal pathology, Prenatal-Diagnosis, Esophageal Atresia, Vater Association, Tracheoesophageal Fistula, Renal Anomalies, Congenital-Anomalies, Cardiac Anomalies, Vertebral Defects, Fanconi-Anemia, Sonic Hedgehog
Kaynak
Fetal And Pediatric Pathology
WoS Q Değeri
Q4
Scopus Q Değeri
Cilt
42
Sayı
4
