We report two siblings with Rothmund-Thomson syndrome (RTS); the older sist
er died of acute myeloblastic leukaemia and the younger sister has a slowly
progressive leucopenia. Her prognosis is guarded in view of the increased
incidence of neoplasms in this condition. More than 200 cases of RTS have n
ow been reported worldwide.(1) This is the first report of siblings with ha
ematological disease and RTS.