Shirley Eric D, Ain Michael C
United States Navy, Naval Medical Center Portsmouth, Portsmouth, VA, USA.
J Am Acad Orthop Surg. 2009 Apr;17(4):231-41. doi: 10.5435/00124635-200904000-00004.
Achondroplasia, the most common skeletal dysplasia, is caused by a mutation of fibroblast growth factor receptor-3. This disorder is characterized by frontal bossing, midface hypoplasia, otolaryngeal system dysfunction, and rhizomelic short stature. Orthopaedic manifestations are exhibited in the spine and the extremities. In the infant with achondroplasia, foramen magnum stenosis may result in brainstem compression with apnea and sudden death. Thoracolumbar kyphosis is seen in most infants, but typically it resolves when the child begins to walk. Anatomic anomalies of the vertebral column place the patient at risk for spinal stenosis as early as the first decade and especially during adulthood. Radial head dislocation is one manifestation in the upper extremity. Lower extremity alignment often is characterized by genu varum, which may require correction osteotomy. Medical and surgical options are available to increase patient height, but indications are controversial, and treatment often consumes a large portion of the child's life.
软骨发育不全是最常见的骨骼发育异常，由成纤维细胞生长因子受体-3突变引起。这种疾病的特征是额头突出、面中部发育不全、耳鼻喉系统功能障碍和近端肢体短小身材。骨科表现出现在脊柱和四肢。患有软骨发育不全的婴儿，枕骨大孔狭窄可能导致脑干受压，出现呼吸暂停和猝死。大多数婴儿会出现胸腰椎后凸，但通常在孩子开始走路时会自行缓解。脊柱的解剖异常使患者早在第一个十年就有发生椎管狭窄的风险，成年期尤其如此。桡骨头脱位是上肢的一种表现。下肢排列通常以膝内翻为特征，可能需要进行矫正截骨术。有药物和手术方法可增加患者身高，但适应证存在争议，而且治疗往往会占据孩子生命中的很大一部分时间。
