An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review

An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review

Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease characterized by appearance of premature aging, including the skin, bones, heart, and blood vessels caused by LMNA mutation. In this study, the patient presented with congenital micrognathia and progressively aggravated upper a...

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Bibliographic Details
Main Authors: Duojiao Xu, Yujiao Guo, Zhan Qi, Chanjuan Hao, Guoxia Yu
Format: Article
Language:English
Published: Elsevier 2023-10-01
Series:Heliyon
Subjects:
Hutchinson-Gilford progeria syndrome
LMNA mutation
Congenital micrognathia
Dyspnea
Mandibular distraction osteogenesis
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844023080659

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http://www.sciencedirect.com/science/article/pii/S2405844023080659

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