[Ellis-van creveld syndrome, with bilateral sensory-neural hearing loss: report of a case and literature review]

ABSTRACT

Ellis-van Creveld syndrome is a constellation of chondral, ectodermal and cardiac defects. It is a rare autosomal recessive syndrome with variable expression. This syndrome is also known as chondroectodermal dysplasia and mesoectodermal dysplasia. The main features are short stature, short ribs, polydactyly, dysplastic fingernails and teeth, accompanied by heart defects. We are reporting a 2-year-old girl referred to our genetics center with dwarfism, mesomelic short limbs, narrow thorax, funnel chest, short ribs, oligodontia, oral frenula, postaxial polydactyly of fingers and deafness. Her clinical findings are compatible with Ellis-van Creveld syndrome