Bloom's syndrome - a hereditary short stature syndrome

Bloom's syndrome is a rare condition which is doubtlessly underdiagnosed. I t is characterized by pre- and postnatal growth deficiency, cutaneous lesio ns, a recognizable facial dysmorphism, recurrent infections and an excessiv e risk of cancer. The pathogenetic basis is a significantly increased genom ic instability. Bloom's syndrome is transmitted as an autosomal-recessive t rait. The responsible gene has been identified recently. We report on a 4 y ear old Turkish girl with Bloom's syndrome confirmed by an increased sister chromatid exchange rate. She came to our attention because of severe growt h deficiency, but lacked the cutaneous signs. Discussion: Our report emphasizes that Bloom's syndrome has to be considere d in children presenting with proportionate short stature, even in the abse nce of the full clinical phenotype.