软骨发育不全查看来源

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您请求的操作仅限于组中的用户:软骨发育不全最常见的原因是成纤维细胞生长因子受体-“3”(“FGFR3”)基因的遗传异常。该基因负责抑制成骨细胞，在软骨发育不全的个体中，该突变影响发育过程中的表皮生长板。“在软骨内骨发育中，突变增加了成纤维细胞[[Image:DNA.jpg|thumb|FGFR3基因突变是软骨发育不全的最常见原因。生长因子受体-“3”信号，干扰软骨细胞增殖和分化，对表皮(生长)板产生不利影响。一些研究也关注了父母年龄和软骨发育不全患病率增加的影响。“在德克萨斯州，年龄在25-29岁、30-34岁、35-39岁以及大于或等于40岁的父亲与年轻父亲相比，其后代患新生软骨发育不全的比例显著增加。”
====全身性受累====由于软骨发育不全严重累及肌肉骨骼系统，许多患有这种疾病的人患有各种骨骼问题，如退行性关节疾病、骨关节炎、软骨表面过度磨损等。软骨发育不全患者可能需要治疗的一些更常见的并发症如下。这些和许多其他并发症，包括心肺问题，可继发于软骨发育不全发生的发育不良变化。*枕骨大孔狭窄可导致颈髓受压和中枢性呼吸暂停
*腰椎管狭窄可导致跛行和尿失禁等神经功能缺损*胸部畸形可导致限制性肺部疾病Stokes DC, Phillips JA, Leonard CO, Dorst JP, Kopits SE, Trojak JE, Brown DL。 Respiratory complications of achondroplasia. The Journal of pediatrics. 1983 Apr 1;102(4):534-41. ===== Medical Management ===== There are no direct medical treatments for achondroplasia. However, there are many medical treatments for other disorders that may develop as a direct or indirect result of achondroplasia. Because otitis media is a commonly associated condition, medical management will likely be taken to treat it. Screening for hearing loss should also be routinely performed for the same reason. Upper respiratory illnesses are also typical among individuals with achondroplasia and thus medications and other treatments may be given for the management of these issues. The same abnormal development of the skull that predisposes the individual to upper respiratory issues may also lead to dental issues. Therefore, persons with achondroplasia may require the care of an orthodontist to correct malocclusions and crowding.Celenk P, Arici S, Celenk C. Oral findings in a typical case of achondroplasia. Journal of international medical research. 2003 Jun;31(3):236-8. Individuals should be routinely screened for other commonly associated conditions so that the appropriate treatment may be provided. Such conditions include but are not limited to spinal stenosis, degenerative joint disease, neurological changes at the spinal root level, and osteoarthritis. Many of these conditions may need to be treated with surgical interventions if left untreated with conservative methods for long periods of time or if conservative treatment does not improve the patient's symptoms.

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