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.
Parker
M J
MJ
Department of Clinical Genetics, City Hospital, Nottingham, UK.
Groggins
R C
RC
Rees
P G
PG
Young
I D
ID
D001176:Arthrogryposis; D002311:Cardiomyopathy, Dilated; D002648:Child; D004476:Ectodermal Dysplasia; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome