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Facio-cardio-renal syndrome: a newly delineated recessive disorder
John Russell Eastman 1 , 2 David Bixler 1
  1 Departments of Oral-Facial Genetics and Medical Genetics, Indiana University Medical Center, Indianapolis, U.S.A.
Correspondence to   2 DDS Department of Oral-Facial Genetics Indiana University School of Dentistry 1121 West Michigan Street Indianapolis, Indiana 46202 U.S.A
Copyright 1977 Blackwell Munksgaard

ABSTRACT

A previously undescribed genetic syndrome with multiple congenital malformations is described. The major components include: 1) horseshoe kidneys; 2) severe mental retardation; 3) characteristic facies; and 4) heart defects. Evidence for considering it to be an autosomal recessive syndrome is also discussed.


Received 14 December 1976, accepted for publication 17 January 1977

DIGITAL OBJECT IDENTIFIER (DOI)
10.1111/j.1399-0004.1977.tb01339.x About DOI

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