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Article

Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000

Rakheja Dinesh, Uddin Naseem, Mitui Midori, Cope-Yokoyama Sandy, Hogan Robert N, Burns Dennis K

Abstract excerpt

We present autopsy findings of a stillborn female infant at 20 to 21 weeks' gestation with neuroaxonal dystrophy. External examination showed features of fetal akinesia deformation sequence. Internal examination showed hypoplasia of the cerebellum, corpus callosum, and optic nerves, as well as nuclear cataracts. Light and electron microscopic examinations showed widespread axonal spheroids in the central and...

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Identifiers

PMID: 20235854
DOI: 10.2350/10-01-0782-CR.1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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