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Am J Med Genet A ; 194(2): 320-327, 2024 Feb.
Article de Anglais | MEDLINE | ID: mdl-37822287

RÉSUMÉ

VACTERL association is defined as the nonrandom co-occurrence of a minimum of three of the following six key components: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. Patients presenting with two components may also belong in the same spectrum. Additional components have been associated with VACTERL defects, including single umbilical artery, tethered spinal cord (TSC), and genital malformations. We observed a significant proportion of patients with bladder dysfunction (often called neurogenic bladder in the medical record) when reviewing a cohort of patients with VACTERL defects at our clinical center. Our finding calls attention to bladder dysfunction as an additional VACTERL phenotypic component. The prevalence of bladder dysfunction is greatest in those with genital anomalies, anorectal malformations, sacral dysplasia, renal anomalies, and TSC. We propose that patients with two or more VACTERL malformations be monitored for symptoms of bladder dysfunction if one or more of the identified risk factors are present until the achievement of urinary continence.


Sujet(s)
Cardiopathies congénitales , Maladies du rein , Anomalies morphologiques congénitales des membres , Humains , Incidence , Vessie urinaire , Oesophage/malformations , Trachée/malformations , Anomalies morphologiques congénitales des membres/diagnostic , Anomalies morphologiques congénitales des membres/épidémiologie , Anomalies morphologiques congénitales des membres/complications , Rein/malformations , Cardiopathies congénitales/complications , Cardiopathies congénitales/épidémiologie , Cardiopathies congénitales/diagnostic , Rachis/malformations , Canal anal/malformations , Maladies du rein/complications
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