Skeletal Manifestations in NF1

作者: David H. Viskochil , David A. Stevenson

DOI: 10.1007/978-3-319-92450-2_7

关键词:

摘要: Neurofibromatosis type 1 (NF1) is a multisystem disorder that includes skeletal abnormalities. Although tumors and pigmentary findings are hallmark features of NF1, the orthopedic manifestations can lead to diagnosis require modified approaches management. One NIH clinical diagnostic criteria for NF1 group distinctive osseous lesions, providing reference unique aspect in this condition (Stumpf et al., Arch Neurol 45:575–578, 1988; Gutmann JAMA 278:51–57, 1997, book). In addition sphenoid wing dysplasia tibial bowing with long bone dysplasia, health care providers familiar aware many associated guide them both establishing level confidence steer These additional myriad include scoliosis, dystrophic non-dystrophic forms, short stature, pectus abnormalities, cranial osteopenia, vertebral body dural ectasia, non-ossifying fibromas, central giant cell granulomas.

参考文章(77)
Xiaohua Wu, Shi Chen, Yongzheng He, Steven D Rhodes, Khalid S Mohammad, Xiaohong Li, Xianlin Yang, Li Jiang, Grzegorz Nalepa, Paige Snider, Alexander G Robling, D Wade Clapp, Simon J Conway, Theresa A Guise, Feng-Chun Yang, None, The haploinsufficient hematopoietic microenvironment is critical to the pathological fracture repair in murine models of neurofibromatosis type 1. PLOS ONE. ,vol. 6, ,(2011) , 10.1371/JOURNAL.PONE.0024917
Simon J. Howell, Patrick Wilton, Anders Lindberg, Stephen M. Shalet, Growth hormone replacement and the risk of malignancy in children with neurofibromatosis The Journal of Pediatrics. ,vol. 133, pp. 201- 205 ,(1998) , 10.1016/S0022-3476(98)70245-8
John T. Smith, Peter M. Stevens, Combined adductor transfer, iliopsoas release, and proximal hamstring release in cerebral palsy. Journal of Pediatric Orthopaedics. ,vol. 9, pp. 1- 5 ,(1989) , 10.1097/01241398-198901000-00001
Aaron Schindeler, Alyson Morse, Lorraine Harry, Craig Godfrey, Kathy Mikulec, Michelle McDonald, Jürg A. Gasser, David G. Little, Models of tibial fracture healing in normal and Nf1-deficient mice. Journal of Orthopaedic Research. ,vol. 26, pp. 1053- 1060 ,(2008) , 10.1002/JOR.20628
Nicola Brunetti-Pierri, Stephen B Doty, John Hicks, Kelly Phan, Roberto Mendoza-Londono, Maria Blazo, Alyssa Tran, Susan Carter, Richard Alan Lewis, Sharon E Plon, William A Phillips, EO’Brian Smith, Kenneth J Ellis, Brendan Lee, None, Generalized metabolic bone disease in Neurofibromatosis type I. Molecular Genetics and Metabolism. ,vol. 94, pp. 105- 111 ,(2008) , 10.1016/J.YMGME.2007.12.004
Xiaohua Wu, Selina A Estwick, Shi Chen, Menggang Yu, Wenyu Ming, Todd D Nebesio, Yan Li, Jin Yuan, Reuben Kapur, David Ingram, Mervin C Yoder, Feng-Chun Yang, Neurofibromin plays a critical role in modulating osteoblast differentiation of mesenchymal stem/progenitor cells Human Molecular Genetics. ,vol. 15, pp. 2837- 2845 ,(2006) , 10.1093/HMG/DDL208
Alvin H. Crawford, Neurofibromatosis in children. American Family Physician. ,vol. 218, pp. 1- 60 ,(1986) , 10.3109/17453678609156819
Tae-Joon Cho, Joong-Bae Seo, Hye Ran Lee, Won Joon Yoo, Chin Youb Chung, In Ho Choi, Biologic characteristics of fibrous hamartoma from congenital pseudarthrosis of the tibia associated with neurofibromatosis type 1. Journal of Bone and Joint Surgery, American Volume. ,vol. 90, pp. 2735- 2744 ,(2008) , 10.2106/JBJS.H.00014
James Cleon Hunt, David G. Pugh, Skeletal Lesions in Neurofibromatosis Radiology. ,vol. 76, pp. 1- 20 ,(1961) , 10.1148/76.1.1
Pek-Lan Khong, Winnie H. S. Goh, Virginia C. N. Wong, Cheuk-Wing Fung, Gaik-Cheng Ooi, MR Imaging of Spinal Tumors in Children with Neurofibromatosis 1 American Journal of Roentgenology. ,vol. 180, pp. 413- 417 ,(2003) , 10.2214/AJR.180.2.1800413