Abstract
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.
Highlights
Ellis-van Creveld (EVC) syndrome (OMIM 225500),1 called chondro-ectodermal or mesodermal-ectodermal dysplasia, is a very rare genetic disease that displays an autosomal recessive trait.2,3 Its exact prevalence remains unknown, but more than 150 cases have so far been reported, with higher frequency among the Amish community.3 EVC syndrome is considered to be a heterogeneous genetic condition, in which loss-of-function mutations in the genes EVC and EVC2 are responsible for about half of the patients with EVC syndrome
We report here a man presenting a very rare association between EVC syndrome and type 1 diabetes mellitus (DM)
Congenital heart defects have been described in up to 60% of the patients with EVC syndrome, and atrioventricular canal defects are the most frequently observed malformations,3,4 as seen in our patient
Summary
Assistant Professor and Clinical Geneticist, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil. Adjunct Professor of Clinical Genetics and Professor of the Postgraduate Program on Pathology and Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil. Associate Professor of Clinical Genetics and professor of the Postgraduate Program on Pathology, Clinical Genetics and Cytogenetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil.
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