Dental anomalies and short stature (DASS) has been recently identified as a distinct entity, associated with bi‐allelic hypomorphic variants in LTBP3 gene. Only 20 individuals from nine families have been previously reported, with a consistent phenotype of short stature, brachyolmia, and amelogenesis imperfecta. We report the first case from India, with novel radiographic and molecular findings in LTBP3 gene, thereby expanding the phenotypic spectrum of DASS.

中文翻译：

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LTBP3相关骨骼发育不良中双等位基因功能丧失的新变异体：印度第一例患者的报道。

近期发现牙齿异常和矮小（DASS）是一个独特的实体，与LTBP3基因中的双等位基因亚型变异有关。先前仅报道了来自9个家庭的20个个体，这些个体具有一致的表型：矮小身材，运动短促和釉质生成不全。我们报告了来自印度的第一例病例，它在LTBP3基因中具有新颖的放射学和分子发现，从而扩大了DASS的表型谱。