Crawford Alvin H, Herrera-Soto Jose
Cincinnati Children's Hospital, 3333 Burnet Avenue, ML 2017, Cincinnati, OH 45229-3039, USA.
Orthop Clin North Am. 2007 Oct;38(4):553-62, vii. doi: 10.1016/j.ocl.2007.03.008.
Neurofibromatosis type 1 (NF-1) is a multisystemic disease. It may manifest as abnormalities of the nervous tissue, bones, soft tissue, and skin. The manifestations of NF-1 vary from person to person and range from subclinical to severe. Individuals who carry the gene eventually exhibit some clinical feature of the disease. The penetrance for NF-1 nears 100% during adulthood. Skeletal abnormalities are common in NF-1, with most patients presenting with some type of bony dysplasia. The orthopedic complications usually appear early. They include spinal deformities, such as scoliosis or kyphosis, congenital tibial dysplasia with bowing and pseudarthrosis of the tibia, forearm, other bones, as well as overgrowth phenomenon of an extremity, and soft tissue tumors.
1型神经纤维瘤病(NF-1)是一种多系统疾病。它可能表现为神经组织、骨骼、软组织和皮肤的异常。NF-1的表现因人而异,从亚临床症状到严重症状不等。携带该基因的个体最终会出现该疾病的一些临床特征。在成年期,NF-1的外显率接近100%。骨骼异常在NF-1中很常见,大多数患者会出现某种类型的骨发育异常。骨科并发症通常出现较早。它们包括脊柱畸形,如脊柱侧凸或后凸、先天性胫骨发育异常伴胫骨、前臂及其他骨骼的弓形弯曲和假关节,以及肢体过度生长现象和软组织肿瘤。