Research progress of short stature in patients with neurofibromatosis type 1
HAN Hui-qiao
PAN Hui
ZHU Hui-juan
Abstract：Neurofibromatosis type 1(NF1)is an autosomal dominant hereditary disease caused by NF1 gene mutation with an incidence of 2.0 to 4.8 per 10,000.NF1 is a multi-systemic disease characterized by abnormal differentiation of neuroectoderm with the clinical manifestations of café-au-lait macules,iris Lisch nodules,multiple neurofibromas,skeletal deformity,optic glioma and so on.NF1 is closely related to the growth and development of children,and the patients have a higher proportion of short stature than normal population.In this paper,we reviewed the recent researches of NF1 patients with short stature in order to understand the current research status in China and abroad,to raise clinicians'awareness of the growth status of NF1 patients and to provide scientific guidance for the clinical management of growth and development of children with NF 1.
Keywords：neurofibromatosis type 1neurofibromin 1 geneshort stature
Publication Date：2025-03-06
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 250-255 )