title: Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association.
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.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892-3717, USA. solomonb@mail.nih.gov
authors.forename: Benjamin D
authors.initials: BD
authors.lastname: Solomon
authors.forename: Manu S
authors.initials: MS
authors.lastname: Raam
authors.forename: Daniel E
authors.initials: DE
authors.lastname: Pineda-Alvarez
mesh_terms: D001003:Anal Canal / Q000002:abnormalities / Q000473:pathology; D004947:Esophagus / Q000002:abnormalities / Q000473:pathology; D005260:Female; D006330:Heart Defects, Congenital / Q000453:epidemiology* / Q000473:pathology; D006801:Humans; D007668:Kidney / Q000002:abnormalities / Q000473:pathology; D017880:Limb Deformities, Congenital / Q000453:epidemiology* / Q000473:pathology; D008297:Male; D013131:Spine / Q000002:abnormalities / Q000473:pathology; D014132:Trachea / Q000002:abnormalities / Q000473:pathology; D014564:Urogenital Abnormalities / Q000453:epidemiology* / Q000473:pathology