Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy--a new syndrome?
The clinical features in a 10-year-old girl with distal arthrogryposis, ectodermal dysplasia and a dilated cardiomyopathy are presented. Review of the relevant literature has not revealed any other similar report. Parental consanguinity points to autosomal recessive inheritance.
Department of Clinical Genetics, City Hospital, Nottingham, UK.
M J
MJ
Parker
R C
RC
Groggins
P G
PG
Rees
I D
ID
Young
D001176:Arthrogryposis; D002311:Cardiomyopathy, Dilated; D002648:Child; D004476:Ectodermal Dysplasia; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome