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Article

Pontocerebellar hypoplasia in two siblings with dysmorphic features.

Journal of child neurology - 1 Jan 2002

Dilber Embiya, Aynaci Fatma Müjgan, Ahmetoglu Ali

Abstract excerpt

We present two siblings with pontocerebellar hypoplasia who have progressive microcephaly, mental and motor retardation, truncal ataxia, strabismus, and progressive spasticity and hyperreflexia of the lower limbs. Extrapyramidal dyskinesia and epilepsy, other main clinical features of pontocerebellar hypoplasia, are absent. The older sibling also has a high arched palate, triangular-shaped face, thoracolumbar...

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PMID: 11913577
DOI: 10.1177/088307380201700119

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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