Pathological fractures on both lower limbs with Jaffe-Campanacci's syndrome.

Jaffe-Campanacci's syndrome is a very rare condition and was first described by Jaffe in 1958. It is presented by non-ossifying fibromas, café-au-lait spots and axillar freckling. Non-ossifying fibromas are usually found after minor traumas or stress fractures.

Interferon-gamma gene and interferon-gamma receptor-1 gene polymorphisms in children with tuberculosis from Turkey.

Macrophage activation by interferon-gamma (IFN-gamma) is important in host resistance to tuberculosis (TB). In this study, the relationships of the +874 T/A polymorphism in the first intron of the IFN-gamma gene and intronic (CA)n polymorphic microsatellite marker of the interferon-gamma receptor 1 (IFN-gammaR1) gene to TB susceptibility were investigated in children. Forty children with TB and 67 age-matched controls were included.

A severe alpha thalassemia case compound heterozygous for Hb Adana in alpha1 gene and 20.5 kb double gene deletion.

We report a 6-year-old boy diagnosed as transfusion dependent chronic nonspherocytic hemolytic anemia since 40 days old. Hemoglobin H inclusions were detected with brilliant cresyl blue preparation. His parents were found to be normal on physical examination.