Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?
AUTOR(ES)
Brueton, L A
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1017028Documentos Relacionados
- Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.
- Ellis-van Creveld syndrome in identical twins.
- Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred.
- Two cases of Ellis-van Creveld syndrome in a small island population.
- Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome.