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Article

Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Mar 2015

Goyal Manisha, Pradhan Gaurav, Wieland Ilse, Kapoor Seema

Abstract excerpt

Craniofrontonasal syndrome (CFNS; OMIM # 304110) is a rare X-linked disorder with greater severity in heterozygous females than in hemizygous males. CFNS is characterized by coronal craniosynostosis, frontal bossing, severe hypertelorism, craniofacial asymmetry, downslant palpebral fissure, broad nasal root, bifid nasal tip, grooved fingernails, curly wiry hair, and abnormalities of the thoracic skeleton. There...

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Source

Identifiers

PMID: 24919122
DOI: 10.1597/13-354

Genes

EFNB1

Provenance

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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Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation.PMID 24919122Read ↗

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Clinical and Neurodevelopmental Course in a Case of EFNB1-Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis.Semantic proximity Read ↗

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The First Description of Monozygotic Twin Females Discordant for the Craniofrontonasal Syndrome Phenotype and the Report of Four Novel Pathogenic Variants in the EFNB1 GeneSemantic proximity Read ↗

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