Ellis Van Creveld Syndrome

We read with great interest the two excellent case histories of chondroectodermal dysplasia (Ellis-van Creveld syndrome) that were reported recently by Smith and Hand (Pediatrics, 21:298, 1958). We must take issue, however, with the conclusion that "The statistical probability of siblings having the complete tetrad of defects is rather remote...." This conclusion appears to be based on the assumptions that the four members of the tetrad (chondrodysplasia, ectodermal dysplasia, polydactylism and congenital heart disease) are caused by four different genes, and that the characteristic association of abnormalities to form a syndrome is due to linkage.

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ELLIS-VAN CREVELD SYNDROME (CHONDROECTODERMAL DYSPLASIA)

Orthopedics ◽

10.3928/0147-7447-19940801-17 ◽

1994 ◽

Vol 17 (8) ◽

pp. 735-737

Author(s):

Armando Avolio ◽

Arnold T Berman ◽

Craig L Israelite

Keyword(s):

Ellis Van Creveld Syndrome

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Ellis-van Creveld Syndrome and Dyserythropoiesis

Archives of Pathology & Laboratory Medicine ◽

10.5858/2005-129-0680-ecsad ◽

2005 ◽

Vol 129 (5) ◽

pp. 680-682 ◽

Cited By ~ 1

Author(s):

Deven Scurlock ◽

Daniel Ostler ◽

Andy Nguyen ◽

Amer Wahed

Keyword(s):

Myelodysplastic Syndrome ◽

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Case Reports ◽

Clinical Manifestations ◽

Autosomal Recessive Disorder ◽

Clinical Findings ◽

Cardiac Defects ◽

Ellis Van Creveld Syndrome ◽

Syndrome Association

Abstract Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hematologic abnormalities have been rarely reported in patients with EVC syndrome. Here, we report a case of a 3-year-old Hispanic boy with EVC syndrome and marked dyserythropoiesis. The dyserythropoiesis may be part of an isolated myelodysplastic change or a primary myelodysplastic syndrome and likely represents an unusual EVC syndrome association. To our knowledge, this association has not been previously reported.

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