Saul–Wilson syndrome (SWS) is a rare autosomal recessive disorder characterized by microcephalic primordial dwarfism, spondyloepimetaphyseal dysplasia, characteristic facial findings, clubfoot, brachydactyly, bilateral cataracts, and hearing loss. Recently, recurrent mutations in COG4, encoding a component of the Conserved Oligomeric Golgi (COG) complex, were identified. We created detailed growth curves for stature, weight, and head circumference, as well as weight‐for‐length and weight velocity charts for younger children, derived from hundreds of data points obtained by retrospective chart review from 14 individuals with molecularly‐confirmed SWS. In addition, we performed statistical comparisons of height‐for‐age model fits before and after initiation of growth hormone supplementation, and found that this therapy does not appear to influence height in individuals with SWS. We hope that these charts will represent valuable tools for clinicians, both in assessing whether SWS seems an appropriate diagnosis, as well as to monitor growth of affected individuals. In particular, we hope that our detailed growth characterization will reduce morbidity resulting from unnecessarily aggressive nutritional interventions by well‐intentioned physicians trying to promote weight gain, an unrealistic goal in this genetically‐determined cause of primordial dwarfism.

中文翻译：

---

Saul-Wilson 综合征患者的生长发育。

Saul-Wilson 综合征 (SWS) 是一种罕见的常染色体隐性遗传疾病，其特征是小头型原始侏儒症、脊柱骨骺端发育不良、特征性面部表现、马蹄足、短指、双侧白内障和听力损失。最近，COG4的反复突变，编码保守的寡聚高尔基体 (COG) 复合体的一个组成部分，被鉴定出来。我们创建了身高、体重和头围的详细生长曲线，以及年幼儿童的体重比长度和体重速度图表，这些图表来自通过回顾性图表审查获得的数百个数据点，这些数据点来自 14 名分子确认的 SWS 个体。此外，我们对开始补充生长激素之前和之后的年龄别身高模型拟合进行了统计比较，发现这种疗法似乎不会影响 SWS 患者的身高。我们希望这些图表能为临床医生提供有价值的工具，既可以评估 SWS 是否适合诊断，也可以监测受影响个体的生长。尤其是，