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Recessive Inheritance of a Congenital Malformation SyndromeUnilateral Absence Deformity of Leg and Congenital Cataracts
Victor A. McKusick, MD;
Robert G. Weilbaecher, MD;
G. Winston Gragg
JAMA. 1968;204(2):113-118.
Abstract
A follow-up study was done on an Amish kindred with multiple cases of hydrometrocolpos thought to be inherited as an autosomal recessive. Two cases of a syndrome consisting of absence deformity of one leg, congenital cataract, and progressive scoliosis were found in the same Amish group. This malformation syndrome probably represents a distinct entity, also inherited as an autosomal recessive.
Author Affiliations
From the Division of Medical Genetics, Department of Medicine, Johns Hopkins Hospital and Johns Hopkins University School of Medicine, Baltimore. Mr. Gragg is a medical student at the College of Medicine, University of Tennessee, Memphis.
Footnotes
Reprint requests to Johns Hopkins Hospital, Baltimore 20215 (Dr. McKusick).
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