Diana Carli1, Lorenzo Garagnani2, Mario Lando2, Tracy Fairplay3, Sergio Bernasconi4, Antonio Landi2, Antonio Percesepe5. 1. Division of Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Modena, Italy. 2. Hand Surgery and Microsurgery, University Hospital of Modena, Modena, Italy. 3. Hand Rehabilitation, Department of Locomotor System Diseases, University Hospital of Modena, Modena, Italy. 4. Pediatrics, Department of Mother and Child, University Hospital of Parma, Parma, Italy. 5. Division of Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Modena, Italy. Electronic address: percesepe.antonio@unimo.it.
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. STUDY DESIGN: 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. CONCLUSION: 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.
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. STUDY DESIGN: 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. CONCLUSION: 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: Paul Costin Pariza; Irina Stavarache; Vasile Adrian Dumitru; Octaviana Munteanu; Tiberiu Augustin Georgescu; Valentin Varlas; Consuela-Mădălina Gheorghe; Roxana Elena Bohîlțea Journal: J Med Life Date: 2021 Nov-Dec
Authors: Desiree van den Hondel; Charlotte H W Wijers; Yolande van Bever; Annelies de Klein; Carlo L M Marcelis; Ivo de Blaauw; Cornelius E J Sloots; Hanneke IJsselstijn Journal: Eur J Pediatr Date: 2015-10-24 Impact factor: 3.183