title: Type 1 diabetes in a patient with Ellis-van Creveld syndrome.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
authors.affiliation: Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Carla
authors.initials: C
authors.lastname: Graziadio
authors.forename: Pricila
authors.initials: P
authors.lastname: Bernardi
authors.forename: Rafael Fabiano Machado
authors.initials: RF
authors.lastname: Rosa
authors.forename: Paulo Ricardo Gazzola
authors.initials: PR
authors.lastname: Zen
authors.forename: Giorgio Adriano
authors.initials: GA
authors.lastname: Paskulin
mesh_terms: D003241:Consanguinity; D003922:Diabetes Mellitus, Type 1 / Q000150:complications* / Q000473:pathology; D004613:Ellis-Van Creveld Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D010375:Pedigree; D055815:Young Adult