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.

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 / Carli, Diana; Garagnani, Lorenzo; Lando, Mario; Fairplay, Tracy; Bernasconi, Sergio; Landi, Antonio; Percesepe, Antonio. - In: THE JOURNAL OF PEDIATRICS. - ISSN 0022-3476. - STAMPA. - 164:(2014), pp. 458-62.e1-2-462.e2. [10.1016/j.jpeds.2013.09.033]

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

BERNASCONI, Sergio;PERCESEPE, Antonio
2014

Abstract

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.
2014
164
458-62.e1-2
462.e2
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 / Carli, Diana; Garagnani, Lorenzo; Lando, Mario; Fairplay, Tracy; Bernasconi, Sergio; Landi, Antonio; Percesepe, Antonio. - In: THE JOURNAL OF PEDIATRICS. - ISSN 0022-3476. - STAMPA. - 164:(2014), pp. 458-62.e1-2-462.e2. [10.1016/j.jpeds.2013.09.033]
Carli, Diana; Garagnani, Lorenzo; Lando, Mario; Fairplay, Tracy; Bernasconi, Sergio; Landi, Antonio; Percesepe, Antonio
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1061503
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