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The expanded spectrum of limb anomalies in the VATER association
1Department of Radiology, Northwestern University Medical School, Children's Memorial Hospital, Chicago, Illinois.
Insights
This study reviewed limb anomalies in children with imperforate anus or esophageal atresia. Many exhibited VATER association, but some had additional, rare limb and skeletal malformations.
Area of Science:
- Pediatric Surgery
- Orthopedic Surgery
- Medical Genetics
Background:
- Neonatal surgical interventions for imperforate anus and/or esophageal atresia are common.
- Limb anomalies are frequently associated with these congenital conditions.
- The VATER association is a recognized spectrum of anomalies.
Purpose of the Study:
- To characterize the spectrum of limb anomalies in children undergoing surgery for imperforate anus and/or esophageal atresia.
- To identify limb anomalies beyond the typical VATER association.
- To document subtle hand anomalies in this patient cohort.
Main Methods:
- Radiographic review of 230 children post-neonatal surgery.
- Focus on 31 children with detected limb anomalies.
- Exclusion of cases with chromosomal abnormalities.
Main Results:
- 16 children presented with limb anomalies within the VATER association spectrum.
- 8 children had additional anomalies, including Sprengel deformity, hypoplastic humerus, and radioulnar synostosis.
- Subtle hand anomalies like clinodactyly and syndactyly were prevalent.
Conclusions:
- The spectrum of limb anomalies associated with imperforate anus and esophageal atresia is broader than previously described.
- Careful radiographic assessment is crucial for detecting these anomalies.
- Further investigation into the etiology of these complex associations is warranted.
Abstract:
The radiographs of 230 children who had undergone neonatal surgery for imperforate anus and/or esophageal atresia/tracheoesophageal fistula were reviewed. Of the 31 children with limb anomalies thus detected, the 24 who had no radiologic or laboratory evidence of chromosomal abnormality form the basis of this report. In 16 children the limb anomalies fell within the commonly described spectrum of the VATER association. In the other 8 children and in 3 of the children with typical VATER limb anomalies additional anomalies were encountered: Sprengel deformity [2], hypoplasia of the humerus [3], radioulnar synostosis [1], midline anomalies of the hand [1], absence of the pubis, femur, tibia, and fibula and two rays of the foot [1], and other foot deformities. Subtle anomalies of the hand were common and included: clinodactyly, syndactyly, shortening of the middle phalanx of the fifth digit, and rotary malposition of the digits.