title: 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.
abstract: OBJECTIVE
  To review the clinical characteristics in a series of 25 patients with VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association who were ascertained for upper limb involvement.
  
  
  METHODS
  The study involved a review of clinical and radiologic data from patients with VACTERL association collected by a hand surgery clinic between 2004 and 2013.
  
  
  RESULTS
  Radial axis involvement was found in all 25 patients (100%), with severe thumb function impairment in 79% and complete absence of the radius in roughly 33%. Costovertebral anomalies were the most frequent feature, found in 23 patients (92%). All 3 core features (anal atresia, tracheoesophageal fistula with esophageal atresia, and costovertebral anomalies) were present in only 12% of the patients. Twelve patients (48%) had abnormalities not part of 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 an isolated sacral dimple in 2 patients.
  
  
  CONCLUSIONS
  Upper limb involvement in VACTERL association is a specific feature of the radial axis that occurs in monolateral form in approximately 75% of cases and, when bilateral, always occurs in a nonsymmetrical fashion. Odontoid and coccygeal hypoplasia and sacral dimple are newly reported malformations of the VACTERL phenotype.
authors.affiliation: Division of Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Modena, Italy.
authors.forename: Diana
authors.initials: D
authors.lastname: Carli
authors.affiliation: Hand Surgery and Microsurgery, University Hospital of Modena, Modena, Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Garagnani
authors.affiliation: Hand Surgery and Microsurgery, University Hospital of Modena, Modena, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Lando
authors.affiliation: Hand Rehabilitation, Department of Locomotor System Diseases, University Hospital of Modena, Modena, Italy.
authors.forename: Tracy
authors.initials: T
authors.lastname: Fairplay
authors.affiliation: Pediatrics, Department of Mother and Child, University Hospital of Parma, Parma, Italy.
authors.forename: Sergio
authors.initials: S
authors.lastname: Bernasconi
authors.affiliation: Hand Surgery and Microsurgery, University Hospital of Modena, Modena, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Landi
authors.affiliation: Division of Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Modena, Italy. Electronic address: percesepe.antonio@unimo.it.
authors.forename: Antonio
authors.initials: A
authors.lastname: Percesepe
mesh_terms: D001003:Anal Canal / Q000002:abnormalities*; D003050:Coccyx / Q000002:abnormalities; D004947:Esophagus / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy; D016014:Linear Models; D008297:Male; D009436:Neural Tube Defects / Q000453:epidemiology; D009809:Odontoid Process / Q000002:abnormalities; D019637:Orthopedic Procedures; D011884:Radius / Q000002:abnormalities; D012445:Sacrococcygeal Region / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities*; D013933:Thumb / Q000002:abnormalities; D014132:Trachea / Q000002:abnormalities*; D014469:Umbilical Arteries / Q000002:abnormalities; D014564:Urogenital Abnormalities / Q000453:epidemiology