Infant with high arched palate, bell-shaped chest, joint contractures, and intrauterine fractures.
作者信息
Lacson Atilano G, Donaldson Gail, Barness Enid Gilbert, Ranells Judith D, Pomerance Herbert H
机构信息
University of South Florida College of Medicine, 17 Davis Boulevard, Tampa, FL 33606, USA.
出版信息
Pediatr Pathol Mol Med. 2002 Nov-Dec;21(6):569-84. doi: 10.1080/pdp.21.6.569.584.
PMID:12622018
Abstract
A case is presented of a female newborn infant delivered with an Apgar Score of 1, who could not be resuscitated. There was a high arched palate, bell-shaped chest, contractures of writes inflexion, ankles and knees in extension, and intrauterine fractures. Clinical discussion led to a diagnosis of arthrogryposis secondary to fetal akinesia syndrome caused by nemaline myopathy. Pathology and pathologic discussion confirmed this diagnosis.
摘要
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