โ Scribed by Quarrell, Oliver W.J.; Maltby, Edna L.; Harrison, Christine J.
No coin nor oath required. For personal study only.
We would like to thank Joenje et al. for their comments on our report of a child confidently diagnosed as having Baller-Gerold syndrome. In reporting this case we wished to give further support for the idea that if Baller-Gerold syndrome is a distinct entity it should be diagnosed on the basis of the original description and that cases with a wider phenotype should be reviewed. As part of the case report we had to explain that two separate studies for chromosome breakage had yielded false negative results. We are grateful to Dr. Joenje and colleagues for confirming that false negative results are not an isolated finding; in addition, they seem to support our view that previous cases of Baller-Gerold syndrome, confidently diagnosed on the basis of a wide phenotype, should be re-evaulated. In this context, their comments about fibroblast studies are particularly helpful.
In making the report we wished to question clinical diagnoses of Baller-Gerold syndrome, we made no comment about reviewing all cases with negative results for Fanconi anaemia and specfically, we did not recommend that a diagnosis based on clinical symptomatology should sometimes overrule negative cytogenetic test results.
๐ SIMILAR VOLUMES
We would like to thank Dr. Botto et al. for their response to my Letter to the Editor [Froster, 1996]. I did not intend to imply that Botto et al. [1996] misclassified limb deficiencies. My intention was simply to point out that there are differences in the classification of limb defects. It is co