PubMed · 5738298
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K L Tan. 1968. Chondro-ectodermal dysplasia.. https://pubmed.ncbi.nlm.nih.gov/5738298/
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Ellis-van Creveld (EvC) and Jeune's asphyxiating thoracic dystrophy (ATD) are related disorders characterized by narrow thoracic cage and short-limbed dwarfism. Some patients have overlapping features of both ATD and EvC, indicating that these syndromes may be a part of a disease spectrum. Nephronophthisis has been occasionally reported in patients with ATD, but not with EvC syndrome. We report a patient who was diagnosed with EvC syndrome at birth. He developed hypertension at 5 months of age and gradually progressive renal failure, requiring renal transplantation at 8 years. Histopathological findings in the nephrectomy specimen were indicative of nephronophthisis. The association of nephronophthisis in a patient with EvC syndrome has not been reported previously. This association further supports the hypothesis that ATD and EvC syndromes are related and represent a spectrum of disorders.
A patient with Ellis-van Creveld (EvC) syndrome and bilateral duplication of the primary ulnar ossification center is presented. Abnormal ossification involving secondary ossification centers of the femur and tibia as well as duplication of primary ossification centers in the carpal bones are well described in EvC. No abnormality of ulnar ossification has been noted in patients with EvC or any other skeletal dysplasia. The occurrence of bilateral duplication of ulnar ossification centers extends the clinical findings of the EvC syndrome. The gap between the ossified areas could be misinterpreted as a fracture and thus lead to a suspicion of osteogenesis imperfecta prenatally or traumatic fracture postnatally.
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