Short stature is a feature when a person's height is more than 2 SDS below the corresponding mean height for a given age, gender and population. It can be influenced by many factors essential to growth plate. Here we report a three-generation family with 13 patients affected by osteogenesis imperfecta (OI) type I, short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) or both. Panel sequencing of the proband revealed mutations in two extracellular matrix related genes: COL1A1 and ACAN. When comparing the quantitative trait, height within the family of different mutation carrier groups, we found an interesting cumulative effect, the ones with both mutations manifest shortest stature. Dual diagnoses of the family also suggest the necessity of a comprehensive molecular diagnosis method, such as panel/exome sequencing, especially encountering patients with novel phenotype or extreme trait.

当一个人的身高比给定年龄，性别和人口的平均身高低2 SDS以上时，身材矮小是一种特征。它可能受生长板必不可少的许多因素影响。在这里，我们报告一个三代家庭，其中有13例患者受到I型成骨不全症（OI），身材矮小和骨龄增加，伴或不伴早发性骨关节炎和/或解剖性骨软骨炎（SSOAOD）或两者兼有。先证者的面板测序揭示了两个细胞外基质相关基因的突变：COL1A1和ACAN。当比较不同突变携带者群体的家庭中的数量性状，高度时，我们发现了一个有趣的累积效应，具有两个突变的个体表现出最短的身材。该家族的双重诊断还表明，有必要采用全面的分子诊断方法，例如面板/外显子组测序，尤其是遇到具有新表型或极端特征的患者。