Bertolini G, Trotta M, Caldin M
Diagnostic Imaging and Interventional Radiology, 'San Marco' Veterinary Clinic, Padova, 35143, Italy.
J Small Anim Pract. 2015 Mar;56(3):213-7. doi: 10.1111/jsap.12268. Epub 2014 Sep 5.
A five-year-old intact male golden retriever dog was evaluated for cervical pain and right hemiparesis. Clinical and computed tomography features suggested a caudal cervical instability and myelopathy due to a cervicoscapular malformation resembling the human Klippel-Feil Syndrome with Sprengel Deformity, a rare complex congenital disorder. Polymerase chain reaction (PCR) and direct sequencing of MEOX1, PAX1 and FGFR3 genes were performed in this dog to investigate a possible underlying genetic predisposition, but no mutations were detected in the coding regions of the three target genes evaluated. Other genes can be involved in this condition in dogs and require further investigation. This report describes a cervical vertebral fusion and complex scapular anomaly in a dog. The presence of an omovertebral bone should be considered in the setting of signs characteristic of myelopathy in dogs with or without obvious skeletal deformity.
对一只5岁未绝育的雄性金毛猎犬进行了颈痛和右侧偏瘫评估。临床和计算机断层扫描特征提示，由于一种类似于人类伴有Sprengel畸形的Klippel-Feil综合征的颈肩胛畸形，导致颈椎尾部不稳定和脊髓病，这是一种罕见的复杂先天性疾病。对这只狗进行了MEOX1、PAX1和FGFR3基因的聚合酶链反应（PCR）和直接测序，以研究可能的潜在遗传易感性，但在所评估的三个靶基因的编码区域未检测到突变。其他基因可能与犬的这种情况有关，需要进一步研究。本报告描述了一只狗的颈椎融合和复杂的肩胛异常。在有或没有明显骨骼畸形的犬出现脊髓病特征性体征时，应考虑存在椎动脉骨。
