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 FBN1 have been proposed as the predominant cause of both diseases.

中文翻译：

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一名患有错觉性FBN1突变的8岁男孩的肢端发育异常伴有僵硬的皮肤综合症样严重皮肤症状：病例报告和文献复习。

肢端发育不良是一种罕见的遗传性矮身综合症，具有关节僵硬和不同程度的皮肤硬度。僵硬皮肤综合症是一种罕见的结缔组织疾病，其特征是从出生时开始就弥漫着厚而硬的皮肤。FBN1中的杂合点突变被认为是两种疾病的主要原因。