Genotypes and clinical intervention of patients with neurofibromatosis type 1 associated dystrophic scoliosis.

ABSTRACT:

Objective

To analyze the genotypic characteristics of patients with neurofibromatosis type 1 (NF1) associated dystrophic scoliosis and to summarize the outcomes of the surgical treatment of these patients.

Methods

Exome sequencing (ES) combined with multiplex ligation-dependent probe amplification (MLPA) was used for genotypic identification. All patients underwent surgical treatments for spinal deformities, and the outcomes of the surgery was summarized by analyzing the clinical and imaging parameters before and after the surgery.

Results

Fourteen patients (six males and eight females) were clinically diagnosed as NF1 associated dystrophic scoliosis with common symptoms including café-au-lait spots, paravertebral tumors, and dystrophic scoliosis. NF1 mutations

SUBMITTER: Li H 

PROVIDER: S-EPMC9434403 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature