Materials and methods: The patient was a 30 years old woman referred to our hand clinic for
an extra finger in both hands. She was born to a consanguineous marriage. The patient had …

Objective: Rare disease Background: Gallbladder anomalies are rare congenital defects
with an incidence rate of approximately 2% in the general population. Phrygian cap …

Ellis-van Creveld syndrome (EVC) is a rare condition that is inherited in an autosomal
recessive pattern. It results from a mutation in two genes which are EVC1 and EVC2 located …

Cutaneous disease can often be an initial clue of an underlying cardiovascular disease.
Many congenital conditions (ie, Noonan syndrome with multiple lentigines, Carney complex …

Introdução: A Displasia Condroectodérmica ou síndrome de Ellis-van Creveld (EVC) é uma
doença genética rara com caráter autossômico recessivo descrita primeiramente em 1940 …

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome
patients. Keywords: brachydactyly; chondroectodermal dysplasia; Ellis Van Creveld …

Background: The aim of this study was to determine the effect of educational intervention
based on PEN-3 Model Constructs on diabetic preventive behaviors in pre-diabetic women …

Ellis Van Creveld, a syndrome comprising of chondrodysplasia, bilateral polydactyly of the
hands with skeletal abnormalities, and congenital heart defect is a rare autosomal recessive …

Several genetic disorders manifest with nail dystrophy, allowing diagnosis and clues to
seeking manifestations beyond the nail changes. Pachyonychia congenita results from …