ELLIS-van CREVELD SYNDROME IN A NIGERIAN WOMAN: A CASE STUDY 1 2 1 1 AHMADU MS, TALLEMA, AHIDJO A, TAHIR AA Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare, autosomal recessive th disorder that was first described by Ellis and van Creveld in the mid-20 century.The syndrome is characterized by a tetrad of chondrodystrophy, post axial polydactyly, and hidrotic ectodermal...

Ellis-van Creveld (EVC) syndrome is an autosomal recessive chondrodysplasia. The affected individuals bear a series of skeleton defects, congenital heart septum anomalies, midfacial and dental defects. Previous studies using Evc or Evc2 mutant mice have characterized the pathological mechanism leading to various types Some patients with EVC supernumerary tooth; however, it not known yet if ther...

Let (μα) be a net of Radon sub-probability measures on R, and (tα) be a net in ]0,+∞[ converging to 0. Assuming that the generalized log-moment generating function L(λ) exists for all λ in a nonempty open interval G, we give conditions on the left or right derivatives of L|G, implying vague (and thus narrow when 0 ∈ G) large deviations. The rate function (which can be nonconvex) is obtained as ...