Radial ray defects, renal ectopia, duodenal atresia and hydrocephalus: the extended spectrum for Fanconi anaemia.

@article{Evans1994RadialRD,
  title={Radial ray defects, renal ectopia, duodenal atresia and hydrocephalus: the extended spectrum for Fanconi anaemia.},
  author={D Gareth R Evans and Helene C Rees and A R Spreadborough and Dr. J. B. Campbell and G S Gau and E S Pickering and Sam Hamilton and Jill Clayton-Smith},
  journal={Clinical dysmorphology},
  year={1994},
  volume={3 3},
  pages={200-6}
}
We present two families with a striking concordance of multiple anomalies. These include duodenal and other bowel atresia, radial ray defects especially absent or vestigial thumb, renal ectopia and hydrocephalus. The presence of diagnostically raised sensitivity to mitomycin C in the first family has confirmed Fanconi anaemia. This has further increased the… CONTINUE READING