Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.

Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems. We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia. The diagnosis was clarified by molecular analysis of the DTDST gene, which revealed homozygosity for a previously undescribed mutation leading to a Q454P substitution in the 10th transmembrane domain of the DTDST sulfate transporter.

The role of breast scintigraphy in detecting breast masses.

127 breast scans were performed on 83 female patients using technetium-99m diphosphonate. 46 out of 48 patients with breast cancer had positive breast scans manifested by a focal increased uptake in 37 patients and a diffuse increased uptake in the remaining 9 patients. Benign breast lesions such as fibrocystic disease, fibroadenoma and fat necrosis may also concentrate the radioactive agent in a focal or a diffuse pattern.