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Genetic diagnosis of orlistat pills includes direct sequencing of the FGFR3 gene sequence or its individual exons to detect mutations. Most often, the 13th exon of the gene is studied, since it is there that defects are located in most cases of the disease. Prenatal diagnosis is possible by amniocentesis or chorionic villus sampling.

Examination of the latter reveals a narrowing of the spinal canal in the caudal direction, concave contours of the posterior surface of the lumbar vertebrae. Also radiologically observed shortening and compaction of the femur and humerus, a slight lengthening of the tibia, the epiphyses of the bones of a square shape in the area of the knee joints, flattening of the acetabulum. In about two-thirds of cases of hypochondroplasia, shortening of the ulna is also diagnosed.