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Published on: July 18, 2019
Skeletal manifestations in Fryns syndrome
M Tsukahara1, M Sase, H Tateishi
1Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan.
Abstract:
We report on a female baby with Fryns syndrome who died soon after birth. The patient had short limbs, coarse face, hypoplastic lungs, diaphragmatic hernia, and acral hypoplasia. Literature review disclosed varying degrees of skeletal manifestations in Fryns syndrome; short limbs may be a component of Fryns syndrome.
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