CLINICO PATHOLOGY CONFERENCE: INFANT WITH HIGH ARCHED PALATE, BELL-SHAPED CHEST, JOINT CONTRACTURES, AND INTRAUTERINE FRACTURES |
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| Authors: | Atilano G. Lacson Gail Donaldson Enid Gilbert Barness Judith D. Ranells Herbert H. Pomerance |
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| Affiliation: | a Clinical Associate Professor of Pathology and Laboratory Medicine and Pediatrics, University of South Florida College of Medicine, Tampa, Florida, and Pediatric Pathologist, All Children's Hospital, St. Petersburg, Florida.b Fellow in Pediatric Pathology, Tampa General Hospital, Tampa, Florida.c Professor of Pathology and Laboratory Medicine, Pediatrics, and Obstetrics and Gynecology, University of South Florida College of Medicine, Tampa, Florida.d Associate Professor of Pediatrics, University of South Florida College of Medicine, Tampa, Florida.e Professor of Pediatrics, University of South Florida College of Medicine, Tampa, Florida. |
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| 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. |
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| Keywords: | Arthrogryposis Nemaline Myopathy Intrauterus Fractures |
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