Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?
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.
Brueton
L A
LA
Kennedy Galton Centre, Northwick Park Hospital, Harrow, Middlesex.
Dillon
M J
MJ
Winter
R M
RM
D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis*; D005260:Female; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008099:Liver / Q000002:abnormalities; D008297:Male; D010179:Pancreas / Q000002:abnormalities; D010384:Pelvic Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013902:Radiography, Thoracic; D012272:Ribs / Q000002:abnormalities*; D012857:Situs Inversus / Q000175:diagnosis*