Do some patients with seckel syndrome have hematological problems and/or chromosome breakage?

We report on a 12‐yr‐old female and a 14‐yr‐old male with Seckel syndrome. The 12‐yr‐old female had pancytopenia, which is seen occasionally in patients with Seckel syndrome and is also a feature of Fanconi anemia, a well‐recognized autosomal recessive dwarfism syndrome with chromosome instability. Chromosome breakage analysis of both of our patients also indicated chromosome instability. We suggest that there may be a subgroup of Seckel syndrome patients with chromosome instability and/or hematological problems.