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Article

Intrafamilial variability in Fraser syndrome.

Prenatal diagnosis - 1 Aug 2007

Prasun Pankaj, Pradhan Mandakini, Goel Himanshu

Abstract excerpt

Fraser syndrome (OMIM 219000) is a rare, autosomal recessive disorder characterized by cryptophthalmos, cutanaeous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. There is marked interfamilial clinical heterogeneity. However, there is strong phenotypic similarity and concordance of the degree of...

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Identifiers

PMID: 17546704
DOI: 10.1002/pd.1774

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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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Intrafamilial variability in Fraser syndrome.PMID 17546704Read ↗

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Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.Semantic proximity Read ↗

Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.Semantic proximity Read ↗

Fraser syndrome: affected siblings born to nonconsanguineous parents and diagnosed at autopsy.Semantic proximity Read ↗

The Novel Mutations in the FRAS1 Gene: Two Case ReportSemantic proximity Read ↗

PAX2/Renal Coloboma Syndrome Expresses Extreme Intrafamilial Phenotypic Variability.Semantic proximity Read ↗

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[Fraser syndrome: case report].Semantic proximity Read ↗

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