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Article

The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.

Journal of medical genetics - 1 Jun 1990

Huson S M, Rodgers C S, Hall C M, Winter R M

Abstract excerpt

A case is reported where the major clinical features of craniostenosis and radial aplasia led to an initial diagnosis of Baller-Gerold syndrome. Mild fibular hypoplasia on skeletal survey led to review of the diagnosis and the similarity of the facial phenotype to that of Roberts syndrome was noted. Chromosome analysis showed the premature centromere separation characteristic of this condition. This case raises...

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Identifiers

PMID: 2359099
DOI: 10.1136/jmg.27.6.371
PMCID: PMC1017134

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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

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Research trail→

Click a neighbor to travelStep 1 · 8 closest

The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.PMID 2359099Read ↗

Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature.Semantic proximity Read ↗

Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.Semantic proximity Read ↗

Expanding the phenotypic spectrum of the Baller-Gerold syndrome.Semantic proximity Read ↗

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.Semantic proximity Read ↗

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.Semantic proximity Read ↗

ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION.Semantic proximity Read ↗

Craniosynostosis and radial ray defect: a rare presentation of 22q11.2 deletion syndrome.Semantic proximity Read ↗

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology.Semantic proximity Read ↗

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