Chondroectodermal dysplasia (Ellis–van Creveld syndrome) with dysplasia of renal medulla and bile ducts

Abstract

A case of a 28-month-old boy with chondroectodermal dysplasia (Ellis-van Creveld syndrome) is reported. Besides polydactyly, ectodermal dysplasia, acromelic dwarfism and congenital heart defect, which are characteristic morphologic features of the syndrome, additional dysplastic developmental defects were discovered in the kidneys, liver, and lungs. Detailed histopathologic studies of the growth plates of tibia, femur and ribs disclosed an irregular, partly hyperplastic, partly dystrophic appearance of the epiphyseal cartilage, which was not resorbed properly by the invading blood vessels. Focal areas of necrosis occurred and barriers of tongue-shaped cartilaginous peninsulas persisted. Regular enchondral ossification was hindered and compensatory membrane ossification was found in the fibrosing metaphyseal bone marrow adjacent to the cartilage. Dysplasia and fibrosis of the renal medulla plus interstitial fibrosing nephritis in the cortex resulted in kidney contraction and renal failure. Hepatomegaly, portal fibrosis and bile duct hyperplasia and dysplasia were detected at autopsy, but did not have any clinical significance. These findings once again emphasize that derivatives of all three germ layers are involved in the Ellis-van Creveld syndrome. The possibility that a single metabolic or structural abnormality of the mesenchymal tissues could be responsible for the various organ dysplasias is discussed.

Renal Transplant in an Adult with Ellis Van Creveld Syndrome: A Case Report and Literature Review

“…Prenatal abnormalities may be early discovered by ultrasound examination, after the 18 th gestation week; they include narrow thorax, marked shortening of the long bones, hexadactyly of hands and feet, and cardiac defect [11,12] leading to discussing the diagnosis of short rib-polydactyly syndromes. Increased first-trimester fetal nuchal translucency thickness in association with ECV has been described at 13 th week of gestation [14].…”

“…Cognitive and motor development is normal. Till now few cases of EVC syndrome complicated with kidney failure [11] are reported in literature and moreover only one case of childhood age is reported with renal transplantation in a patient with EVC syndrome [12].…”

Clinical and Radiological Features of Chondroectodermal Dysplasia

“…Less commonly reported malformations include anomalous pulmonary venous return, persistent left superior vena cava and stenosis of the aortic and pulmonary valves [11,13,14]. Presence of a cardiac defect influences the prognosis, and it may contribute to early death as in Patient 2.…”

“…Presence of a cardiac defect influences the prognosis, and it may contribute to early death as in Patient 2. Non-cardiac death is unusual and presumed to be due to the small thorax or bronchopulmonary complications [14]. Central nervous system, urinary, respiratory and biliary tract anomalies have been rarely reported [14,15] as has hepatosplenomegaly [16] (Patient 2).…”

“…Non-cardiac death is unusual and presumed to be due to the small thorax or bronchopulmonary complications [14]. Central nervous system, urinary, respiratory and biliary tract anomalies have been rarely reported [14,15] as has hepatosplenomegaly [16] (Patient 2). Given the presence of this recessive disorder and the frequency of consanguineous marriages in the Assir region of Saudi Arabia, the physician is likely to encounter more patients with the syndrome.…”