Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.

doi:10.1002/(sici)1096-8628(19970211)68:4<421::aid-ajmg10>3.0.co;2-u

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

Back to search

Article

Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.

American journal of medical genetics - 11 Feb 1997

Kosaki K, Curry C J, Roeder E, Jones K L

Abstract excerpt

Ritscher-Schinzel syndrome or 3C (craniocerebello-cardiac) syndrome is characterized by cardiac defects, cerebellar vermis hypoplasia, and cranial defects. Nineteen cases were reported previously; however, the full spectrum of this disorder has not been determined. We have evaluated two unrelated...

Topics

Abnormalities, Multiple
Adult
Agenesis of Corpus Callosum
Cerebellum
Child, Preschool
Corpus Callosum
Dandy-Walker Syndrome
Developmental Disabilities
Face
Female
Heart Defects, Congenital
Heart Septal Defects, Atrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Infant

Infant, Newborn

Male

Nipples

Phenotype

Source

Open in PubMed

Identifiers

PMID: 9021015
DOI: 10.1002/(sici)1096-8628(19970211)68:4<421::aid-ajmg10>3.0.co;2-u

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9021015-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.PMID 9021015Read ↗

The 3C syndrome: evolution of the phenotype and growth hormone deficiency.Semantic proximity Read ↗

[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)].Semantic proximity Read ↗

Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.Semantic proximity Read ↗

Clinical features and revised diagnostic criteria in Joubert syndrome.Semantic proximity Read ↗

Expansion of the Genotypic and Phenotypic Spectrum of <em>TCTN3</em> Related Joubert SyndromeSemantic proximity Read ↗

Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.Semantic proximity Read ↗

Prenatal diagnosis of Joubert syndrome: A case report and literature review.Semantic proximity Read ↗

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.Semantic proximity Read ↗

Clinical Nosologic and Genetic Aspects of Joubert and Related SyndromesSemantic proximity Read ↗

Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal casesSemantic proximity Read ↗

Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.Semantic proximity Read ↗

Schinzel-Giedion syndrome: autopsy report and additional clinical manifestations.Semantic proximity Read ↗

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