Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Division of Medical Genetics, Narayana Hrudayalaya Hospitals, Mazumdar-Shaw Medical Center, Bangalore, India.
Am J Med Genet A. 2021 Apr;185(4):1105-1112. doi: 10.1002/ajmg.a.62082. Epub 2021 Jan 26.
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.
罗宾诺综合征（RS）是一种罕见的异质性疾病，其特征为身材矮小、四肢短小、颅面、口腔牙齿异常、椎体节段缺陷，且常伴有生殖器发育不全。该病遗传模式包括常染色体显性遗传和常染色体隐性遗传，涉及许多致病基因。本研究报道了来自不同印度家庭的 4 名 RS 患儿的表型和基因型。在 ROR2、DVL1 和 DVL3 基因中发现了序列变异。本研究扩展了 RS 的突变谱，并强调了 ROR2 序列变异患者桡骨和尺骨的放射学变化，这些变化主要与 ROR2 相关 RS 有关，但也有报道与 WNT5A 相关 RS 相关。
