Graziadio Carla, Bernardi Pricila, Rosa Rafael Fabiano Machado, Zen Paulo Ricardo Gazzola, Paskulin Giorgio Adriano
Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
Sao Paulo Med J. 2012;130(1):53-6. doi: 10.1590/s1516-31802012000100009.
Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disease characterized by disproportionate short stature, narrow thorax, postaxial polydactyly, nail and tooth abnormalities and congenital heart disease.
The patient was a 22-year-old Caucasian man, the third child of consanguineous parents. He received the diagnosis of insulin-dependent diabetes mellitus (DM) at 16 years of age, and around one year later, he underwent surgery to correct a partial atrioventricular septal defect. Upon physical examination, at 22 years of age, he presented stature of 145.5 cm (P3), weight of 49 kg (P3), head circumference of 54 cm (P2-50), high palate, absence of one of the lower lateral incisor teeth, narrow shoulders, narrowing of the upper thorax, scoliosis, rhizomelic shortening of the upper limbs, brachydactyly, postaxial polydactyly and clinodactyly of the second and third fingers. The lower limbs showed rhizomelic shortening with significant genu valgum (knock-knee deformity), small feet with postaxial polydactyly, syndactyly between the second and third toes and hallux valgus. Multiple melanocytic nevi were evident on the face, thorax and limbs. At that time, he was using neutral protamine Hagedorn (NPH) insulin, with poorly controlled DM. The clinical findings presented led to the diagnosis of EVC syndrome. Only one case of this syndrome has been described with DM so far. Attention is drawn to the fact that the genes associated with this syndrome are located close to those of the Wolfram syndrome, a condition that leads to early-onset diabetes.
埃利斯-范克里维尔德（EVC）综合征是一种罕见的常染色体隐性疾病，其特征为身材不成比例矮小、胸廓狭窄、轴后多指畸形、指甲和牙齿异常以及先天性心脏病。
患者为一名22岁的白种男性，是近亲结婚父母的第三个孩子。他在16岁时被诊断为胰岛素依赖型糖尿病（DM），大约一年后，他接受了手术以纠正部分房室间隔缺损。在22岁进行体格检查时，他的身高为145.5厘米（第3百分位数），体重为49千克（第3百分位数），头围为54厘米（第2-50百分位数），腭高，下侧切牙缺一颗，肩部狭窄，上胸部变窄，脊柱侧弯，上肢近端缩短，短指畸形，轴后多指畸形以及第二和第三指的指侧弯。下肢表现为近端缩短并伴有明显的膝外翻（膝内翻畸形），足部小且有轴后多指畸形，第二和第三趾之间并趾以及拇外翻。面部、胸部和四肢可见多个黑素细胞痣。当时，他正在使用中性鱼精蛋白锌胰岛素（NPH），糖尿病控制不佳。所呈现的临床发现导致了EVC综合征的诊断。迄今为止，仅描述过一例该综合征合并糖尿病的病例。需要注意的是，与该综合征相关的基因位于与沃尔弗拉姆综合征相关基因附近，沃尔弗拉姆综合征会导致早发型糖尿病。
