Ellis-van Creveld syndrome: case report and review of the literature.
Ellis-van Creveld syndrome (EVCS) is a rare. autosomal recessive disorder. We present a 9-year-old boy who was referred to the dermatology clinic for evaluation of congenital nevi. His history was consistent with the classic tetrad of EVCS. We discuss this potentially serious condition with congenital heart malformations that can result in failure to thrive and even death if not recognized early.
Jenkins
Sasha
S
University of North Carolina at Chapel Hill, USA. sasha_jenkins@med.unc.edu
Morrell
Dean S
DS
D002648:Child; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis / Q000503:physiopathology*; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D008297:Male; D009506:Nevus / Q000151:congenital