Infant with high arched palate, bell-shaped chest, joint contractures, and intrauterine fractures.
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.
Lacson
Atilano G
AG
University of South Florida College of Medicine, 17 Davis Boulevard, Tampa, FL 33606, USA.
Donaldson
Gail
G
Barness
Enid Gilbert
EG
Ranells
Judith D
JD
Pomerance
Herbert H
HH
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000328:Adult; D001176:Arthrogryposis / Q000175:diagnosis* / Q000401:mortality / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000175:diagnosis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006801:Humans; D018476:Hypokinesia / Q000150:complications / Q000175:diagnosis*; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D009069:Movement Disorders; D017696:Myopathies, Nemaline / Q000175:diagnosis* / Q000401:mortality / Q000473:pathology; D011247:Pregnancy; D013909:Thorax / Q000002:abnormalities