Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?

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.

• Authors: L A Brueton, M J Dillon, R M Winter
• Journal: Journal of medical genetics (J Med Genet) Vol. 27 Issue 4 Pg. 252-5 (Apr 1990) ISSN: 0022-2593 [Print] England
• PMID: 2325105 (Publication Type: Case Reports, Journal Article)

Topics

• Ellis-Van Creveld Syndrome (diagnosis)
• Female
• Hand (diagnostic imaging)
• Humans
• Infant, Newborn
• Kidney (abnormalities)
• Liver (abnormalities)
• Male
• Pancreas (abnormalities)
• Pelvic Bones (abnormalities, diagnostic imaging)
• Radiography, Thoracic
• Ribs (abnormalities)
• Situs Inversus (diagnosis)