Autopsy and Case Reports
https://www.autopsyandcasereports.org/article/doi/10.4322/acr.2021.323
Autopsy and Case Reports
Autopsy Case Report

Fetal akinesia deformation sequence with pontocerebellar hypoplasia, and migration and gyration defects

Meghan Elizabeth Kapp; Pamela Lyle; Hilary Highfield Nickols

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Abstract

Fetal akinesia deformation sequence (FADS), or Pena-Shokeir phenotype is a constellation of deformational changes resulting from decreased or absent fetal movement, and include arthrogryposis, and craniofacial and central nervous system anomalies. We report an autopsy case of a 36-6/7week female neonate with a normal female karyotype and chromosome microarray demonstrating findings consistent with FADS. We provide a detailed examination of the severe and complex central nervous system abnormalities, including marked pontocerebellar hypoplasia and cortical and cerebellar migration and gyration defects. This case represents a rare detailed examination of the central nervous system of a patient with FADS.

Keywords

arthrogryposis, corpus callosum, infant, newborn, karyotype, phenotype

References

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Submitted date:
05/20/2020

Accepted date:
07/09/2021

Publication date:
09/03/2021

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