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Article

Macrocephaly, distinct craniofacial appearance, and spastic paraplegia: a new case and expansion of the phenotype.

American journal of medical genetics. Part A - 1 Sept 2003

Williams Marc S, Josephson Kevin D

Abstract excerpt

An adult female patient is presented with macrocephaly, mental retardation, seizures, spastic paraplegia and distinctive craniofacial appearance. We believe she represents the fourth case of the Fryns macrocephaly, distinct craniofacial appearance and spastic paraplegia syndrome. Cardinal feature...

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PMID: 12923872
DOI: 10.1002/ajmg.a.20274

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12923872-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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