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Congenit Anom (Kyoto). Author manuscript; available in PMC 2012 June 1.
Published in final edited form as: Congenit Anom (Kyoto). 2011 June ; 51(2): 87–91. doi:10.1111/j.1741-4520.2010.00303.x.

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Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies,Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association
Benjamin D. Solomon1,*, Manu S. Raam1,2, and Daniel E. Pineda-Alvarez1 1 Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA
2

Howard Hughes Medical Institute-National Institutes of Health Research Scholars Program, Howard Hughes MedicalInstitute, Chevy Chase, MD, USA

Abstract
Purpose—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. Procedures—We collected clinical data on 105 patients diagnosed with VACTERL association and analyzed a subset of 89 patientswho met more stringent inclusion criteria. Findings—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. Conclusions—There should be a high index of suspicion for the presence of GU anomalies even in patient who donot have spatially similar malformations. Keywords VACTERL; VACTERL association; VATER; VATER association; genitourinary anomalies

Introduction
VACTERL association, sometimes termed VATER association depending on the criteria used for diagnosis, is estimated to occur in 0.3 to 2.1 per 10,000 live births (de Jong et al., 2008) and is a relatively poorly understood condition that includes atleast several of the following defining component features: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities (Quan & Smith, 1973; Czeizel & Ludányi, 1985). The presence of many overlapping conditions makes accurate diagnosis challenging for both clinicians and researchers, and the exact criteria for diagnosis, in terms of thenumber and nature of anomalies included, are controversial (Rittler et al., 1996; Källén et al., 2001). Overlapping conditions include deletion 22q11.2 syndrome, Fanconi anemia, Feingold syndrome, oculo-auriculo-vertebral defect spectrum, Pallister-Hall syndrome, Townes-Brocks syndrome, as well as MURCS

*

Corresponding author: Benjamin D. Solomon, Building 35, Room 1B-207, 35 Convent DriveMSC 3717, Bethesda, MD 20892-3717, United States, Phone: +1 (301) 451-7414 (o); +1 (301) 594-7487 (ad. asst.), Fax: +1 (301) 496-7184, solomonb@mail.nih.gov.

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association, which specifically describes patients with Mullerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia (Duncan et al., 1979; Shaw-Smith, 2006). Though there is some evidence forinheritance of component features, the condition frequently occurs sporadically, and the causes remain elusive in all but a very small fraction of patients (Weaver et al., 1986; Brown et al., 1999; Solomon et al., 2010). Although genitourinary (GU) anomalies are not considered one of the core component features, these malformations have been reported often in patients with VACTERL association (Weaveret al., 1986; Rittler et al., 1996; Botto et al., 1997; Stoll et al., 2007). GU anomalies have typically been described in patients who were also affected by malformations of the lower intestinal and renal systems. Ascertainment of such anomalies can be critical, as they may lead to significant morbidity and mortality (Rich et al., 1988). Consideration of the shared developmental biology of the...