A lethal autosomal recessive syndrome of multiple congenital contractures
Abstract
We describe 16 cases of a lethal syndrome with multiple congenital contractures from ten families. The main clinical findings included intrauterine growth retardation with marked fetal hydrops, multiple contractures, and facial abnormalities, especially micrognathia. At autopsy, pulmonary hypoplasia and muscular atrophy were present. There was a paucity of anterior horn motor neurons in the four studied cases. We think that the cases represent...
Paper Details
Title
A lethal autosomal recessive syndrome of multiple congenital contractures
Published Date
Mar 1, 1985
Volume
20
Issue
3
Pages
431 - 439
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