Brief clinical report: chondroectodermal dysplasia (Ellis-van Creveld) with anomalies of CNS and urinary tract.
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.
D001921:Brain / Q000002:abnormalities*; D002540:Cerebral Cortex; D002551:Cerebral Ventricle Neoplasms / Q000235:genetics; D002828:Choristoma / Q000235:genetics; D004613:Ellis-Van Creveld Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D014551:Urinary Tract / Q000002:abnormalities*