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Clinical Cases in mineral and bone metabolism

Spinal deformities in neurofibromatosis type 1

Mini-review, 348 - 352
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Neurofibromatosis type 1 (NF-1) is a multisystemic, autosomal genetic disorder of neural crest origin. It is characterized by extremity deformities such as congenital anterolateral bowing and pseudarthrosis of tibia, fibula and forearm, as well as hemihypertrophy. Spine deformities in NF-1 including scoliosis, kyphosis and atlantoaxial instability can be present in 2-36% of the patients. Scoliosis is the most common musculoskeletal manifestation.
This review article presents the most common spine deformities in NF-1, and discusses the classification, imaging, treatments and complications of these deformities.

Vol. XV (No. 3) 2018 September - December

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