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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.

Original publication

DOI

10.1097/00019605-199807000-00009

Type

Journal article

Journal

Clin Dysmorphol

Publication Date

07/1998

Volume

7

Pages

205 - 208

Keywords

Arthrogryposis, Cardiomyopathy, Dilated, Child, Ectodermal Dysplasia, Fatal Outcome, Female, Humans, Infant, Newborn, Syndrome