VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement

Objective: To report the clinical characteristics seen in a series of 25 patients with VACTERL association ascertained for their upper limb involvement. Study design: Review of clinical and radiological data of patients with VACTERL association collected by a Surgery of the Hand Clinic from 2004 to 2013. Results: Radial axis involvement was found in 100% of the patients with severe thumb function impairment in 79% of them and a complete absence of the radius in one third. Costo-vertebral anomalies were the most frequent feature, found in 23 patients (92%), whereas all the three core features (anal atresia, tracheo-esophageal fistula with esophageal atresia and costo-vertebral anomalies) were present in only 12% of the patients. Twelve patients (48%) had abnormalities not belonging to the VACTERL spectrum, showing a specific pattern of non-VACTERL-type malformations including genitourinary abnormalities (12%), single umbilical artery (8%) and tethered cord (8%). Previously unreported clinical findings were: concurrent hypoplasia of both the odontoid process and the coccyx in 2 patients and 2 cases with an isolated sacral dimple. Conclusion: Upper limb involvement in VACTERL association is a specific feature of the radial axis which occurs in monolateral form in about three fourths of the cases and, when bilateral, always takes place in a non-symmetrical fashion. Odontoid and coccygeal hypoplasia and sacral dimple are newly reported malformations of the VACTERL phenotype.