Escobar ,M. Quintero de Lucas, G. It is characterized by short-limbed dwarfism, bilateral postaxial hand polydactyl, chondrodysplasia of long bones and ectodermic dysplasia affecting fingernails and teeth. The knowledge of it is essential for early diagnosis and appropriate multidisciplinary management that allows a better quality of life for these patients.
|Published (Last):||27 August 2016|
|PDF File Size:||11.51 Mb|
|ePub File Size:||9.64 Mb|
|Price:||Free* [*Free Regsitration Required]|
Genetics[ edit ] Ellis—van Creveld syndrome often is the result of founder effects in isolated human populations , such as the Amish and some small island inhabitants. Although relatively rare, this disorder does occur with higher incidence within founder-effect populations due to lack of genetic variability. Observation of the inheritance pattern has illustrated that the disease is autosomal recessive , meaning that both parents have to carry the gene in order for an individual to be affected by the disorder.
The gene was identified by positional cloning. The function of a healthy EVC gene is not well understood at this time. As a result of new genetic research, some of these are, in fact, highly related in their root cause despite the widely varying set of medical symptoms that are clinically visible in the disorders. Ellis—van Creveld syndrome is one such disease, part of an emerging class of diseases called ciliopathies.
The underlying cause may be a dysfunctional molecular mechanism in the primary cilia structures of the cell , organelles which are present in many cellular types throughout the human body. The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases.
Symptomatic medical treatments are focussing on symptoms caused by orthopaedic, dental or cardiac problems. Ellis — of Edinburgh and Simon van Creveld — of Amsterdam. A third patient had been referred to by L. Emmett Holt, Jr. He observed the largest pedigree so far, in an inbred religious isolate, the Old Order Amish, in Lancaster County, Pennsylvania. This leaves Ellis—van Creveld syndrome with its initialism, EVC, as the only satisfactory designation. Chondroectodermal dysplasia and mesoectodermal dysplasia do not well define the entity and are not satisfactory for general usage, either medical or otherwise.
Síndrome de Ellis Van Creveld: caso clínico
¿Qué es el Síndrome de Ellis-van Creveld?