Work

Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo‐Esophageal fistula, Renal anomalies, Limb abnormalities) association

Year: 2010

Type: article

Abstract: The goal of this study was to describe a novel pattern of genitourinary (GU) anomalies in VACTERL association,which involves congenital anomalies affecting the vertebrae,anus, heart, trachea and esophagus, kidneys, and limbs.We collected clinical data on 105 patients diagnosed with VACTERL association and analyzed a subset of 89 patients who met more stringent inclusion criteria. Twenty-one percent of patients have GU anomalies, which are more severe (but not more frequent) in females. Anomalies were noted in patients without malformations affecting the renal, lower vertebral, or lower gastrointestinal systems. There should be a high index of suspicion for the presence of GU anomalies even in patients who do not have spatially similar malformations.

Source: Congenital Anomalies

DOI: 10.1111/j.1741-4520.2010.00303.x

Authors: Benjamin D. Solomon, Manu S. Raam, Daniel E. Pineda‐Alvarez

Institutions: National Institutes of Health, National Human Genome Research Institute, Howard Hughes Medical Institute

Language: English

Topic: Urological Disorders and Treatments

Subfield: Urology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: National Institutes of Health, National Human Genome Research Institute