Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?
Open Access
- 1 April 1990
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 27 (4) , 252-255
- https://doi.org/10.1136/jmg.27.4.252
Abstract
We describe two children with multiple abnormalities, neither of whom fits neatly into a classical diagnostic category, but who show overlapping features of Ellis-van Creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia. It seems possible that these three entities form part of a disease spectrum rather than being distinct conditions.Keywords
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