Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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, including the father of the two affected daughters. This family emphasizes the wide variation in the phenotype of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Child, Preschool
Share to Craniosynostoses

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Expression Regulation

Share to Genetic Carrier Screening

Share to Genetic Variation

Share to Pedigree

Share to Phenotype

Source

Identifiers

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

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.

Related research

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

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Craniofrontonasal dysostosis: variable expression in a three-generation family.PMID 2289316Read ↗

Craniofrontonasal dysplasia: more severe expression in the mother than in her son.Semantic proximity Read ↗

Diverse clinical and genetic aspects of craniofrontonasal syndrome.Semantic proximity Read ↗

Craniofrontonasal syndrome: study of 41 patients.Semantic proximity Read ↗

Frontofacionasal dysplasia: a new case and review of the phenotype.Semantic proximity Read ↗

Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review.Semantic proximity Read ↗

[Craniofrontonasal syndrome: genetic aspects and description of a clinical case].Semantic proximity Read ↗

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.Semantic proximity Read ↗

Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the SOX3 gene.Semantic proximity Read ↗

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.Semantic proximity Read ↗

Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum.Semantic proximity Read ↗

Frontonasal dysostosis in two successive generations.Semantic proximity Read ↗

Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.