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Article

Craniofrontonasal dysostosis: variable expression in a three-generation family.

Clinical genetics - 1 Dec 1990

Kere J, Ritvanen A, Marttinen E, Kaitila I

Abstract excerpt

A family with craniofrontonasal dysostosis (craniofrontonasal dysplasia) is described. There were three severely affected females, two of them daughters of apparently healthy parents. Examination of the male relatives revealed orbital hypertelorism and other minor anomalies in two of them, includ...

Topics

Adult
Child
Child, Preschool
Craniofacial Dysostosis
Craniosynostoses
Female
Gene Expression Regulation
Genetic Carrier Screening
Genetic Variation
Humans
Male
Pedigree
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 2289316
DOI: 10.1111/j.1399-0004.1990.tb03610.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2289316-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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