Two cases of Ellis-van Creveld syndrome in a small island population.
AUTOR(ES)
Hill, R D
RESUMO
Two individuals showing features typical of the autosomal recessive Ellis-van Creveld syndrome have been diagnosed in a population of 1340 individuals living on a small island off the west coast of Scotland. Clinical features and family relationships of the affected individuals are described.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1013503Documentos Relacionados
- Ellis-van Creveld syndrome in identical twins.
- Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred.
- Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome.
- Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?
- Diabetes tipo 1 em um paciente com a síndrome de Ellis-van Creveld