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Related Experiment Videos

Pena-Shokier phenotype: case presentation and review.

Nathaniel Kho1, Laurence Czarnecki, John F Kerrigan

  • 1Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix, Arizona, USA.

Journal of Child Neurology
|August 2, 2002
PubMed
Summary

Pena-Shokier phenotype, a lethal disorder, can stem from various causes including neuromuscular issues or brain malformations. This report details a unique fatal case involving congenital polymicrogyria, a rare association.

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Neurology

Background:

  • Pena-Shokier phenotype is a severe, early-lethal disorder characterized by joint contractures, facial anomalies, and pulmonary hypoplasia.
  • Etiologies previously linked to this condition include neuromuscular dysfunction, spinal cord abnormalities, and neuromuscular junction blockade.

Observation:

  • This report presents a fatal case of Pena-Shokier phenotype in an infant.
  • The infant exhibited congenital polymicrogyria, a significant brain malformation.

Findings:

  • This case represents the first documented instance of Pena-Shokier phenotype associated with congenital polymicrogyria.
  • The findings suggest intrauterine cerebral dysfunction as a potential cause of Pena-Shokier phenotype.

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Implications:

  • This association broadens the known spectrum of etiologies for Pena-Shokier phenotype.
  • Further research into the interplay between brain development and fetal movement disorders is warranted.