Brief Clinical Report

Chondroectodermal dysplasia (Ellis-van Creveld) with anomalies of CNS and urinary tract

  1. Dr. Sérgio Rosemberg*,
  2. Paulo C. Carneiro,
  3. Maria Claudia N. Zerbini,
  4. Claudette H. Gonzalez,
  5. John M. Opitz Editor

Article first published online: 2 JUN 2005

DOI: 10.1002/ajmg.1320150212

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 15, Issue 2, pages 291–295, June 1983

Additional Information

How to Cite

Rosemberg, S., Carneiro, P. C., Zerbini, M. C. N., Gonzalez, C. H. and Opitz, J. M. (1983), Chondroectodermal dysplasia (Ellis-van Creveld) with anomalies of CNS and urinary tract. Am. J. Med. Genet., 15: 291–295. doi: 10.1002/ajmg.1320150212

Author Information

  1. Departments of Pathology and Pediatrics, São Paulo University School of Medicine, São Paulo, Brazil

*Departamento de Patologia, Faculdade de Medicina da Universidade de São Paulo, Av. Dr. Arnaldo 455, CEP 01246, São Paulo, Brasil

Publication History

  1. Issue published online: 2 JUN 2005
  2. Article first published online: 2 JUN 2005
  3. Manuscript Revised: 20 DEC 1982
  4. Manuscript Received: 8 OCT 1982

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Keywords:

  • Chondroectodermal dysplasia;
  • Ellis-van Creveld syndrome;
  • central nervous system malformation;
  • renal agenesis;
  • congenital megaureter;
  • developmental field defect;
  • autosomal recessive inheritance;
  • malformation/dysplasia syndrome

Abstract

We report on a 19-month-old girl with chondroectodermal dysplasia (Ellis-van Creveld) and other previously undescribed visceral and central nervous system anomalies. These anomalies include cerebral heterotopias, renal agenesis, and congenital megaureter.

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