Abstract

CONTEXT: 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.
CASE REPORT: 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.

Links

Publisher Full Text

Authors

Graziadio C, Bernardi P, Rosa RF, Zen PR, Paskulin GA

Institution

Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.

Source

São Paulo medical journal = Revista paulista de medicina 130:1 2012 pg 53-6

MeSH

Consanguinity
Diabetes Mellitus, Type 1
Ellis-Van Creveld Syndrome
Humans
Male
Pedigree
Young Adult

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22344360