Anal atresia, eye anomalies, and an additional small abnormal acrocentric chromosome (47,XX,mar+): report of a case.
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A case of radial artery hypoplasia in a girl with the VATER syndrome is reported. This finding should alert surgeons dealing with vascular access for dialysis and suggests the possibility of intrauterine ischemia in the etiology of upper limb anomalies in these patients.
We report a case of bilateral ureteral triplication associated with crossed ectopic fused kidneys, vesicoureteral reflux and the VACTERL syndrome (Vertebral defects, Anal atresia, Cardiovascular anomalies, Tracheo-Esophageal fistula, Radial and renal anomalies, and Limb defects). The relevant literature is reviewed.
We describe an infant with the VATER association in whom a Wilms tumor was noted when she was 5 months old. The lower pole tumor arose near the pelvis and grew into an adjacent calix producing a cystic and solid mass with numerous papillary projections resembling sarcoma botryoides. Histopathologically, the tumor was a classical Wilms tumor but it was unusual in that the papillary projections of the tumor were covered by intestinal-like epithelium, which was interpreted as metaplastic urothelium. The margins were free of tumor and the patient is being treated according to the National Wilms Tumor Study Protocol for stage I lesions. She is currently without evidence of recurrence.
Persistence of the mesonephric duct is a well recognized but uncommon abnormality that results in vasoureteral fusion. This anomaly may be accompanied by rectal malformations and disturbances of renal ascent or morphology. The literature on persistence of the mesonephric duct was reviewed and the data were correlated with our understanding of embryogenesis in an attempt to understand the relationship between these seemingly unrelated anomalies. It is concluded that the triad of persistence of the mesonephric duct, rectal anomalies and anomalies of renal ascent or morphology may be the result of a common embryologic event and should be regarded as representing a distinct syndrome. A theory to explain this syndrome is proposed.
Of 150 children with congenital anorectal malformations 50 per cent had urogenital abnormalities. Vesicoureteral reflux was noted in 47 per cent of the children with a supralevator and in 35 per cent with an infralevator lesion. A urinary tract evaluation is recommended in all children with congenital anorectal anomalies.
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Among 23 children with the VATER association 21 had significant genitourinary involvement. The extent of these genitourinary anomalies is not generally appreciated. The principal renal anomalies were renal agenesis (7 cases), ureteropelvic junction obstruction (5 cases), crossed fused ectopia (5 cases) and severe reflux (9 cases). Since corrective urologic surgery is commonly beneficial for children with the VATER association, an early and appropriate urologic evaluation is indicated.
We report on a female newborn with the VATER association and an ectopic labium majus in the right inguinal area. An ectopic labium majus is homolgous to an ectopic scrotum in the male subject. The latter anomaly is associated with renal agenesis or dysplasia. The possible relationship between ectopic labia and renal agenesis is discussed.
Urinary diversion is not often required in children. Initial enthusiasm for permanent forms of diversion, especially intestinal conduits, has tempered recently with improved reconstructive techniques and the initiation of intermittent catheterization in the management of neurogenic bladder. However, occasionally, temporary diversion still affords the best means of preserving renal function and allowing ultimate reconstruction in a child with uropathology. In our experience vesicostomy has been a successful and simple procedure for temporary diversion in selected children with vesical or urethral disorders. The technique is simple, tubeless, easy to manage and readily reversible. We have reviewed 24 vesicostomies performed in children at our institution during the last 5 years. The results have been overwhelmingly successful and satisfactory. Cutaneous vesicostomy is our preferred form of diversion in selected children who suffer complications of bladder dysfunction until the potential of the bladder can be determined and a definitive plan of management can be established. The specific surgical technique as well as results and complications are discussed.