Robinow syndrome (RS) is a rare heterogeneous disorder characterized by short stature, short‐limbs, craniofacial, oro‐dental abnormalities, vertebral segmentation defects, and frequently genital hypoplasia. Both autosomal dominant and recessive patterns of inheritance are observed with many causative genes. Here, we present the phenotypes and genotypes of four children with RS from different Indian families. Sequence variants were identified in genes ROR2, DVL1, and DVL3. Our results expand the mutational spectrum of RS and we also highlight the radiological changes in the radius and ulna in patients with ROR2 sequence variants which are primarily characteristic for ROR2 related RS but have been reported in WNT5A related RS.

中文翻译：

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4 例不同家族 Robinow 综合征患者的临床和分子特征

Robinow 综合征 (RS) 是一种罕见的异质性疾病，其特征是身材矮小、四肢短小、颅面、口齿畸形、椎体分割缺陷和经常出现的生殖器发育不全。许多致病基因都观察到常染色体显性和隐性遗传模式。在这里，我们展示了来自不同印度家庭的四个 RS 儿童的表型和基因型。在基因ROR2、DVL1和DVL3中鉴定了序列变体。我们的结果扩展了 RS 的突变谱，我们还强调了ROR2序列变异患者的桡骨和尺骨的放射学变化，这些变化主要是ROR2相关 RS 的特征，但已在WNT5A相关 RS。