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Article

Ophthalmic features in a dysmorphic boy with chromosome 4q deletion and duplication.

Ophthalmic genetics - 1 Jun 2009

Parentin Fulvio, Fabretto Antonella, Benussi Daniela Gambel, Petix Vincenzo, Marchetti Federico, Dalprà Leda, Redaelli Serena, Pensiero Stefano, Pecile Vanna

Abstract excerpt

The 4q deletion syndrome shows varying phenotype, ranging from severe and complex malformations, unconformable with life, to more specific findings, as genitourinary, gastrointestinal and cardiac malformations, cleft palate,microcephaly, hypertelorism and abnormal ears and limbs. Strabismus, nystagmus, ophthalmoplegia, and optic nerve anomalies have been rarely described in literature. We report an original case...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19373683
DOI: 10.1080/13816810802592559

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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