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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.

Pediatric Pathology & Molecular Medicine
|March 8, 2003
PubMed

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.

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