CLINICO PATHOLOGY CONFERENCE: INFANT WITH HIGH ARCHED PALATE, BELL-SHAPED CHEST, JOINT CONTRACTURES, AND INTRAUTERINE FRACTURES

Atilano G. Lacson 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

Gail Donaldson Fellow in Pediatric Pathology, Tampa General Hospital, Tampa, Florida

Enid Gilbert Barness Professor of Pathology and Laboratory Medicine, Pediatrics, and Obstetrics and Gynecology, University of South Florida College of Medicine, Tampa, Florida

Judith D. Ranells Associate Professor of Pediatrics, University of South Florida College of Medicine, Tampa, Florida

Herbert H. Pomerance Professor of Pediatrics, University of South Florida College of Medicine, Tampa, FloridaCorrespondence[email protected]

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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CLINICO PATHOLOGY CONFERENCE: INFANT WITH HIGH ARCHED PALATE, BELL-SHAPED CHEST, JOINT CONTRACTURES, AND INTRAUTERINE FRACTURES

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CLINICO PATHOLOGY CONFERENCE: INFANT WITH HIGH ARCHED PALATE, BELL-SHAPED CHEST, JOINT CONTRACTURES, AND INTRAUTERINE FRACTURES

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