Wilms' tumour and a de novo (1;7) translocation in a child with bilateral radial aplasia.

The case of a child with nephroblastoma, bilateral radial aplasia, and a de novo (1;7) translocation is reported. The association between abnormal karyotypes, dysmorphic syndromes, and childhood malignancy is well known.' We report the presence of a nephroblastoma in a boy with bilateral radial aplasia and a balanced de novo (1;7) translocation. Case report The patient was the first child of healthy, unrelated parents who both came from the same small village in southern Italy. He was born at 37 weeks after a clomiphene induced pregnancy and had a birth weight of 3280 g (>10th centile). Bilateral radial aplasia was noted clinically after birth, as was shortening of the lower limbs. All digits were present, he had a normal facies, and there was no clinical evidence of cardiac anomalies. Full blood count at this time showed a haemoglobin of 17-1 g/dl, total white cell count 14-2 x 109/l, and the platelets were low at 78 x 109/1. There were no clinical problems from the thrombocytopenia and the count returned to normal values on the fourth day. Radiological investigation confirmed the radial aplasia and also showed other skeletal anomalies. On the right hand there was absence of the first metacarpal and proximal phalanx of the thumb and Royal Hospital for Sick Children, St Michael's Hill, Bristol BS2 8BJ. M Hewitt, P W Lunt, A Oakhill Correspondence to Dr Hewitt. hypoplasia of the distal phalanx. The left hand had a hypoplastic first metacarpal and proximal phalanx of the thumb. Hypoplasia of the middle phalanx of the left fifth finger was also seen. Shortening of both tibiae and fibulae was present. At 5 years of age a large, left sided abdominal mass was found. Radiological investigations suggested an intrarenal mass on the left with splaying of the lower pole calyces. At laparotomy, however, a white lesion was noted on the anterior surface of the right kidney and consequently surgery was limited to bilateral renal biopsies. Histology showed small round cells consistent with nephroblastoma from the left kidney and blastoma cells from the right kidney. There was no evidence of regional spread. He was therefore assumed to have a stage I (favourable histology) tumour (staging from the United Kingdom National Wilms' Tumour Study). At this presentation his haemoglobin was 12 0 g/dl, WCC 10 4x 109/l, and platelets 344x 109/1.