Результаты использования новой медицинской технологии «Система детекции наиболее частых мутаций гена FGFR3 , ответственного за ахондроплазию и гипохондроплазию» в ДНК-диагностике

Achondroplasia and Hypochondroplasia are the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. Hypohondroplasia is much milder and can be distinguished on clinical and radiographic grounds. Hypochondroplasia and achondroplasia are indeed allelic disorders that cause by mutation in FGFR3 «hot spots». The paper presents the results of DNA diagnostics 200 probands with short-limb dwarfism using embedded into practice FSBI «RCMG» new medical technology «Detection system the most frequent mutations in FGFR3 gene, liability for achondroplasia and hypochondroplasia».