EXPANSION OF THE SHORT SYNDROME PHENOTYPE IN AN ADULT PATIENT WITH UNILATERAL BASAL GANGLIA CALCIFICATION

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.