Ellis-van Creveld syndrome
Definition
Ellis-van Creveld syndrome is an individually recognized genetic condition characterized by short stature and malformations of the heart, limbs, nails, and teeth. The name given to this condition originates from Richard W.B. Ellis of Scotland and Simon van Creveld of the Netherlands. Each had a patient with this syndrome in his care when the two met by chance in an English train car on the way to a pediatric conference in the late 1930s.
Description
Ellis-van Creveld (EvC) syndrome primarily affects the skeletal system, but is also associated with congenital heart defects. EvC syndrome is one of the six short rib polydactyly syndromes, or SRPS. There is considerable overlap between the features of these six syndromes. Clinical, radiological, and pathological studies are being...
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