Related Experiment Videos
Infant with high arched palate, bell-shaped chest, joint contractures, and intrauterine fractures
Atilano G Lacson1, Gail Donaldson, Enid Gilbert Barness
1University of South Florida College of Medicine, 17 Davis Boulevard, Tampa, FL 33606, USA.
Insights
A newborn female infant with severe congenital anomalies, including intrauterine fractures and contractures, could not be resuscitated. The case highlights nemaline myopathy as a cause of fetal akinesia syndrome and arthrogryposis.
Area of Science:
- Neonatal Medicine
- Pathology
- Genetics
Background:
- Congenital anomalies and intrauterine fetal demise present diagnostic challenges.
- Fetal akinesia syndrome encompasses a spectrum of conditions characterized by reduced fetal movement.
Observation:
- A female newborn presented with Apgar Score of 1, high arched palate, bell-shaped chest, contractures, and intrauterine fractures.
- The infant could not be resuscitated post-delivery.
Findings:
- Clinical and pathological findings confirmed arthrogryposis secondary to fetal akinesia syndrome.
- Nemaline myopathy was identified as the underlying cause of the fetal akinesia syndrome.
Implications:
- This case underscores the importance of recognizing nemaline myopathy in severe fetal akinesia and arthrogryposis.
- Understanding the genetic basis of such conditions is crucial for accurate diagnosis and potential future counseling.
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.