Salinas-Torres V M, De La O-Expinoza E A, Salinas-Torres R A
Genet Couns. 2016;27(4):479-483.
SHORT syndrome is a rare autosomal dominant disorder whose acronym stands for short stature, hyperextensibility of joints and/or hernias, ocular depression, Rieger anomaly, and teething delay. Common clinical features include intrauterine and postnatal growth restriction, lipoatrophy, characteristic facial gestalt, anterior chamber defects and insulin resistance/diabetes. To date, the coexistence of SHORT syndrome and unilateral basal ganglia calcification has not been reported. Here, we describe a 27-year-old woman bom to healthy first-cousin Mexican parents who exhibited the SHORT syndrome phenotype and unilateral basal ganglia calcification. The current observation provides additional knowledge of the spectrum of anomalies that can occur in SHORT syndrome and further illustrates the clinical variability of this disorder. Therefore, basal ganglia calcification and other brain abnormalities should be specifically looked for in all affected patients in order to provide appropriate medical management and genetic counseling.
SHORT综合征是一种罕见的常染色体显性疾病，其首字母缩写代表身材矮小、关节过度伸展和/或疝气、眼球内陷、里格尔异常和出牙延迟。常见临床特征包括宫内和出生后生长受限、脂肪萎缩、特征性面部形态、前房缺陷以及胰岛素抵抗/糖尿病。迄今为止，尚未有SHORT综合征与单侧基底节钙化并存的报道。在此，我们描述一名27岁女性，其父母为健康的墨西哥近亲，该女性表现出SHORT综合征表型和单侧基底节钙化。目前的观察为SHORT综合征可能出现的一系列异常情况提供了更多认识，并进一步说明了该疾病的临床变异性。因此，对于所有受影响患者都应特别检查是否存在基底节钙化和其他脑部异常，以便提供适当的医疗管理和遗传咨询。
