Abstract
The objective of this study was to compare the prevalence of genetic disorders in anorectal malformation (ARM) patients with upper limb anomalies to that in ARM patients with other associated anomalies. A retrospective case study was performed in two pediatric surgery centers. All patients born between 1990 and 2012 were included. VACTERL (vertebral defects (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia (R), and limb anomalies (L)) was defined as at least three components present. We included 700 ARM patients: 219 patients (31 %) had isolated ARM, 43 patients (6 %) had a major upper limb anomaly, and 438 patients (63 %) had other associated anomalies. The most prevalent upper limb anomalies were radial dysplasia (n = 12) and hypoplastic thumb (n = 11). Ten of the 43 patients (23 %) with an upper limb anomaly were diagnosed with a genetic disorder—nine also met the VACTERL criteria—vs. 9 % of ARM patients with other anomalies (p = 0.004, chi-squared test).Conclusion: Genetic disorders are twice as frequently diagnosed in ARM patients with upper limb anomalies than in those with other anomalies. As they also frequently meet the VACTERL criteria, it is important to consider VACTERL as a diagnosis per exclusionem. Genetic counseling is certainly warranted in these patients. What is Known:• Anorectal malformations (ARMs) often co-occur with other congenital anomalies, including upper limb anomalies, mainly of pre-axial origin.• Co-occurrence of ARMs and upper limb anomalies is seen in disorders such as Townes-Brocks syndrome, Fanconi anemia, and VACTERL association. What is New:• ARM patients with a major upper limb anomaly—with or without other congenital anomalies—have a twofold greater chance of a genetic disorder than have non-isolated ARM patients without upper limb anomalies.• Not all upper limb anomalies in ARM patients are part of the VACTERL association; a workup for genetic evaluation is proposed.Electronic supplementary materialThe online version of this article (doi:10.1007/s00431-015-2655-9) contains supplementary material, which is available to authorized users.
Highlights
Anorectal malformations (ARMs) are rare congenital anomalies that occur in approximately 1 to 3 in every 5000 live births [13]
Genetic disorders are twice as frequently diagnosed in ARM patients with upper limb anomalies than in those with other anomalies
Co-occurrence of ARMs and upper limb anomalies is seen in disorders such as Townes-Brocks syndrome, Fanconi anemia, and VACTERL association
Summary
Anorectal malformations (ARMs) are rare congenital anomalies that occur in approximately 1 to 3 in every 5000 live births [13]. Of the ARM patients, 43 to 71 % have additional congenital anatomical anomalies [3, 6, 11, 15, 27] These include a great variety of upper limb anomalies, from a mild hypoplastic thumb to severe radial dysplasia [7, 10, 11, 18,19,20, 26, 29]. Once evaluation has excluded known syndromes, VACTERL association can be considered, which refers to vertebral defects (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia (R), and limb anomalies (L). VACTERL association is mainly associated with preaxial limb defects [5]
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