Autopsy and Case Reports
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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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.


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


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