Hypochondrogenesis is a severe genetic disorder causing malformations of bone growth. The condition is characterized by a short body and limbs and abnormal bone formation in the spine and pelvis. Hypochondrogenesis is a subtype of collagenopathy, types II and XI, and is similar to another skeletal disorder, achondrogenesis type 2, although the spinal changes seen in hypochondrogenesis tend to be somewhat milder. Signs and symptoms
Symptoms of hypochondrogenesis include: edema, limb undergrowth, spondyloepiphyseal dysplasia, short ribs, respiratory failure, short chin, upper limb undergrowth, thoracic hypoplasia, hypertelorism, hydrops fetalis, pulmonary hypoplasia, and a cleft palate. Pathophysiology
Hypochondrogenesis is one of the most severe conditions in a spectrum of disorders caused by mutations in the COL2A1 gene. The protein made by this gene forms type II collagen, a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). Type II collagen is essential for the normal development of bones and other connective tissues (tissues that form the bodys supportive framework). Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly. This condition is caused by new mutations in the COL2A1 gene. Hypochondrogenesis is considered an autosomal dominant disorder because the affected gene is located on an autosome, and only one copy of the altered gene is necessary to cause the condition. The disorder is not passed on to the next generation, however, because affected individuals do not live long enough to have children.
The currently marketed quinolones have safety profiles similar to that of other antimicrobial classes.The serious events may occur with therapeutic or with acute overdose. At therapeutic doses they include: central nervous system toxicity, cardiovascular toxicity, tendon / articular toxicity, and rarely hepatic toxicity. Events that may occur in acute overdose are rare and include: renal failure and seizure. Children and the elderly are at greater risk. Tendon damage may manifest during, as well as up to a year after fluoroquinolone therapy.The FDA ordered a black box warnings on all fluoroquinolones advising consumers of the possible toxic effects of fluoroquinolones on tendons.On August 15, 2013 the FDA issued a Safety Announcement where they described that they are requiring the medication guides and drug labels for all fluoroquinolones to be updated and better describe the risk for peripheral neuropathy. The peripheral neuropathy may occur very quickly, and may be irreversible. This warning applies to fluoroquinolones taken by mouth and injection, but does not apply to fluoroquinolones taken topically. Current findings
One recent study showed that Gemifloxacin possess anti-metastatic activities against breast cancer in vitro and in vivo (in mice). See also
Fluoroquinolone


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