Acromicric dysplasia with stiff skin syndrome‐like severe cutaneous presentation in an 8‐year‐old boy with a missense FBN1 mutation: Case report and literature review

摘要

Acromicric dysplasia is a rare heritable short‐stature syndrome with joint stiffness and varying degrees of cutaneous hardness. Stiff skin syndrome is a rare connective tissue disorder characterized by diffusely thick and hard skin from the time of birth. Heterozygous point mutations in the have been proposed as the predominant cause of both diseases.