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Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy--a new syndrome?
M J Parker1, R C Groggins, P G Rees
1Department of Clinical Genetics, City Hospital, Nottingham, UK.
Clinical Dysmorphology
|August 5, 1998
Abstract:
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.