Department of Neurosurgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, Iowa 52242, USA.
J Clin Neurosci. 2010 May;17(5):664-6. doi: 10.1016/j.jocn.2009.09.013. Epub 2010 Mar 2.
Campomelic dysplasia is a rare autosomal dominant syndrome that often results in congenital spinal deformity. As a result of improvements in respiratory care, some patients survive into childhood, requiring treatment of their spinal deformities. We present a neonate who was diagnosed with campomelic dysplasia, resulting in severe cervical and thoracic kyphoscoliosis and respiratory compromise. A review of the literature and reported treatment options are discussed. Campomelic dysplasia is a rare cause of congenital spinal deformity; however, intervention may be appropriate in certain patients.
短颈畸形症是一种罕见的常染色体显性遗传综合征，常导致先天性脊柱畸形。由于呼吸护理的改善，一些患者存活至儿童期，需要治疗其脊柱畸形。我们介绍了一位新生儿，他被诊断患有短颈畸形症，导致严重的颈椎和胸椎后凸侧凸和呼吸窘迫。我们回顾了文献并讨论了报告的治疗选择。短颈畸形症是先天性脊柱畸形的罕见原因；然而，在某些患者中，干预可能是合适的。
