Autosomal recessive omodysplasia (GPC6-related) is a rare short-limb skeletal dysplasia caused by biallelic mutations in the GPC6 gene. Affected individuals manifest with rhizomelic short stature, decreased mobility of elbow and knee joints as well as craniofacial anomalies. Both upper and lower limbs are severely affected. These manifestations contrast with normal height and limb shortening restricted to the arms in autosomal dominant omodysplasia (FZD2-related). Here, we report 2 affected brothers of Pakistani descent from Denmark with GPC6-related omodysplasia, aiming to highlight the clinical and radiological findings. A homozygous deletion of exon 6 in the GPC6 gene was detected. The pathognomonic radiological findings were distally tapered humeri and femora as well as severe proximal radioulnar diastasis. On close observations, we identified a recurrent and not previously described type of abnormal patterning in all long bones.

中文翻译：

---

常染色体隐性不典型增生症家庭的新型临床和放射学发现。

常染色体隐性遗传异常增生（与GPC6相关）是由GPC6基因中的双等位基因突变引起的罕见的短肢骨骼发育异常。受影响的个体表现为具有根状茎的矮小身材，肘部和膝关节的活动性降低以及颅面异常。上下肢均受到严重影响。这些表现与常染色体显性发育异常（FZD2相关）中正常的身高和肢体缩短限于手臂形成鲜明对比。在这里，我们报告了2名受感染的巴基斯坦后裔，来自丹麦的巴基斯坦血统，伴有GPC6相关的发育异常，旨在突出临床和放射学结果。检测到GPC6基因中外显子6的纯合缺失。病理影像学影像学表现为远端肱骨和股骨逐渐变细，以及严重的近端放射性尺骨转移。仔细观察，