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:软骨发育不全是最常见的侏儒症。根据沃勒和他的同事在2008年进行的一项研究，“软骨发育不全的患病率在每10000个活产儿中0.36到0.60之间。”Waller DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, Pearson K, Romitti PA, Shaw GM, Hecht JT。美国选定地区软骨发育不全和嗜盐性发育不良的人群患病率。2008;146(18): 2385 - 9。http://www.ncbi.nlm.nih.gov/pubmed/18698630(2011年4月访问)。 June等人发现“大约98%的软骨发育不全患者存在由FGFR3基因G-to-A替代引起的突变;大多数病例是由散发的从头突变引起的。” Almost all of the cases of achondroplasia, therefore, are a result of a gene mutation during development in the womb.
==== Characteristics/Clinical Presentation ==== The ''FGFR3'' gene mutation leads to shortened extremities which are often bowed in appearance especially in the lower extremities. The individual's trunk is normal in size, however, affected persons exhibit an enlarged skull. "Affected individuals can exhibit short stature with rhizomelic (proximal) shortening of the arms and legs, a normal-size trunk with larger heads and frontal bossing, limited elbow extension, bowed legs, spinal kyphosis or lordosis, and spinal stenosis." Per[[Image:Xray.jpg|thumb|X-ray showing lower extremity bowing commonly seen in individuals with achondroplasia. (nemours.org)]]sons with achondroplasia also exhibit decreased growth in the vertebral bodies leading to spinal changes that can predispose the individual to conditions affecting the spinal nerves. Other common symptoms found in achondroplastic dwarfism include: *"Abnormal" hand appearance with persistent space between the long and ring fingers *Bowed legs *Decreased muscle tone *The disproportionately large head-to-body size difference *Prominent forehead (frontal bossing) *Shortened arms and legs (especially the upper arm and thigh) *Short stature (significantly below the average height for a person of the same age and sex) *Spinal stenosis *Spine curvatures called kyphosis and lordosis." ===== Radiographic Features ===== * Trident hand * Frontal bossing
posterior vertebral scalloping * Trident pelvis * Metaphyseal flaring

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