Cited by 806DNA Repair MechanismsGenomics and Rare DiseasesGenetic and rare skin diseases.

Cockayne syndrome: Review of 140 cases

Nance, Martha A., Berry, Susan A.·1992·American Journal of Medical Genetics

Abstract

To define diagnostic criteria for Cockayne Syndrome (CS) and to identify in detail the complications of the condition, a comprehensive review of 140 cases of CS was performed. Criteria required for the diagnosis include poor growth and neurologic abnormality; other very common manifestations include sensorineural hearing loss, cataracts, pigmentary retinopathy, cutaneous photosensitivity, and dental caries. The mean age of death in reported cases is 12 3/12 years, though a few affected individuals have lived into their late teens and twenties. Prenatal growth failure, congenital structural eye anomalies, severe neurologic dysfunction from birth, and the presence of cataracts within the first 3 years of life are predictors of severe disease and early death. In contrast with other disorders of chromosome or DNA repair, cancer has never been reported in a classical CS patient, and there appears to be no predisposition to infectious complications. The wide spectrum of symptoms and severity of the disease suggest that biochemical and genetic heterogeneity exist. CS is an uncommon but devastating genetic condition which will be better understood as the biochemical interrelationships between DNA replication and repair, and between growth, homeostasis, and oncogenesis are unraveled.

Integrity signals

Registry

Crossref · 10.1002/ajmg.1320420115

Cites

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Cited by

Sorted by citations

Authors
Nance, M. A., & Berry, S. A.
Affiliations
University of Minnesota (US)
Corresponding author
Nance, Martha A.
Venue
American Journal of Medical Genetics
Publisher
Wiley
Published
1992-01
Volume
42
Issue
1
Pages
68-84
ISSN
  • 0148-7299 (ISSN-L)
  • 1096-8628
OpenAlex
W2154699761
Cited by
806
References
0
Citations by year
2026: 7 · 2025: 20 · 2024: 19 · 2023: 18 · 2022: 22 · 2021: 29 · 2020: 19 · 2019: 16 · 2018: 29 · 2017: 19 · 2016: 24 · 2015: 30 · 2014: 38 · 2013: 44 · 2012: 25
FWCI
7.27
Type
journal article
Language
en
Open access
closed
Locations
  • American Journal of Medical Genetics (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
Keywords
Cockayne syndrome, diagnostic criteria, growth failure, neurologic dysfunction, sensorineural hearing loss, cataract, pigmentary retinopathy, photosensitivity, dental caries, disease severity predictors, early mortality, DNA repair disorders, genetic heterogeneity, DNA replication
MeSH terms
Adult, Child, Child, Preschool, Cockayne Syndrome, Dental Caries, DNA Repair, Endocrine System Diseases, Eye Diseases, Female, Growth Disorders, Hearing Loss, Sensorineural, Humans, Kidney Diseases, Male, Nervous System Diseases, Phenotype, Skin Diseases

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review