Advances in acromelic dysplasia caused by FBN1 mutation / 国际儿科学杂志
International Journal of Pediatrics
;
(6): 447-451, 2023.
Article
in Chinese
| WPRIM
| ID: wpr-989110
ABSTRACT
The mutation of FBN1 gene results in the abnormality of its encoded fibrillin-1 protein, which affects musculoskeletal growth and results in two opposing phenotypes of tall and short stature, with clinical manifestations of Marfan syndrome and acromelic dysplasia.Acromelic dysplasia caused by FBN1 mutation includes acromicric dysplasia(AD), geleophysic dysplasia(GD)and Weill-Marchesani syndrome(WMS). As some FBN1 mutations have been reported to cause both AD and GD.The dysregulation of TGF-β signal pathway is the underlying mechanism of acromelic dysplasia.Currently, there is no specific treatment, mainly symptomatic treatment, early identification, diagnosis and treatment will improve prognosis of patients.This article will review the pathogenesis, clinical phenotype, treatment and follow-up of acromelic dysplasia caused by FBN1 mutation.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
International Journal of Pediatrics
Year:
2023
Type:
Article
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