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Article

Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Dec 2014

Fernández-Jaén Alberto, Fernández-Perrone Ana Laura, Fernández-Mayoralas Daniel Martín, Calleja-Pérez Beatriz, Sánchez-Hombre María Del Carmen, Fernández Ester Corbacho, López-Martín Sara

Abstract excerpt

CASE REPORT: We describe an unusual clinical case with an 11-Mb deletion at 4q27 (chr4: 123094652-134164491), craniosynostosis (CS), mild psychomotor retardation, and facial dysmorphic features. This deletion involves 18 genes; FGF2, NUDT6, and SPRY1 are primarily or secondarily implicated in hum...

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Source

Identifiers

PMID: 24980605
DOI: 10.1007/s00381-014-2474-8

Genes

FGF2
NUDT6
SPRY1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24980605-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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