Abstract：
The purpose of this overview is to increase the awareness of clinicians regarding type II collagen disorders and their management. The following are the goals of this overview. GOAL 1: Describe the clinical characteristics of type II collagen disorders. GOAL 2: Provide an evaluation strategy to identify the genetic cause of a type II collagen disorder in a proband. GOAL 3: Inform genetic counseling of family members of an individual with a type II collagen disorder. GOAL 4: Review management of type II collagen disorders.
摘要：
本概述的目的是提高临床医生对II型胶原蛋白疾病及其管理的认识。以下是本概述的目标。目标1：描述II型胶原蛋白疾病的临床特征。目标2：提供一种评估策略，以确定先证者中II型胶原蛋白疾病的遗传原因。目标3：告知患有II型胶原蛋白疾病的个体的家庭成员的遗传咨询。目标4：II型胶原蛋白疾病的审查管理。
