Evidence map›Paper›PMID 28160402›Full record

ReviewAmerican journal of medical genetics. Part A2017

Genetic advances in craniosynostosis.

Wanda Lattanzi, Marta Barba, Lorena Di Pietro, Simeon A Boyadjiev

Abstract readReview
In one paragraph

Review in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed, 2 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

45 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Genetics versus environment in the pathophysiology of sagittal synostosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026
    Pooled it
  2. Pooled it
  3. Article
  4. Review
  5. Genetic Testing in Craniofacial Care: Development of Algorithms for Testing Patients with Orofacial Clefting, Branchial Arch Anomalies, and Craniosynostosis.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2025
    Article
  6. A head start: The relationship of placental factors to craniofacial and brain development.Developmental dynamics : an official publication of the American Association of Anatomists · 2025
    Review
  7. Article
  8. Non-syndromic craniosynostosis.Nature reviews. Disease primers · 2025
    Review
  9. Article
  10. Surgical strategy in treatment of metopic synostosis in a single centre experience: technical note and quantitative analysis of the outcomes.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024
    Article
  11. Review
  12. Article
  13. Neurosurgical aspects of Noonan syndrome.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023
    Review
  14. Article
  15. Review
  16. Genes · 2022
    Article
  17. Article
  18. Article
  19. Article
  20. Clinical staging of craniosynostosis: a call for investigation and collaboration.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2022
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Wanda LattanziInstitute of Anatomy and Cell Biology, Università Cattolica del Sacro Cuore, Rome, Italy.
Marta BarbaInstitute of Anatomy and Cell Biology, Università Cattolica del Sacro Cuore, Rome, Italy.
Lorena Di PietroInstitute of Anatomy and Cell Biology, Università Cattolica del Sacro Cuore, Rome, Italy.
Simeon A BoyadjievDivision of Genomic Medicine, Department of Pediatrics, Davis Medical Center, University of California, Sacramento, California.

Funding

NONSYNDROMIC CRANIOSYNOSTOSIS: PHENOTYPE/GENOTYPE STUDYR01DE016886 · NIDCR · UNIVERSITY OF CALIFORNIA AT DAVIS · PI BOYADJIEV BOYD, SIMEON A, ROMITTI, PAUL A · 2006 to 2018
$5.5M
NIDCR NIH HHS R01 DE016886
6 · The paper itself

Abstract

Craniosynostosis, the premature ossification of one or more skull sutures, is a clinically and genetically heterogeneous congenital anomaly affecting approximately one in 2,500 live births. In most cases, it occurs as an isolated congenital anomaly, that is, nonsyndromic craniosynostosis (NCS), the genetic, and environmental causes of which remain largely unknown. Recent data suggest that, at least some of the midline NCS cases may be explained by two loci inheritance. In approximately 25-30% of patients, craniosynostosis presents as a feature of a genetic syndrome due to chromosomal defects or mutations in genes within interconnected signaling pathways. The aim of this review is to provide a detailed and comprehensive update on the genetic and environmental factors associated with NCS, integrating the scientific findings achieved during the last decade. Focus on the neurodevelopmental, imaging, and treatment aspects of NCS is also provided.

Indexed as

Congenital AbnormalitiesCranial SuturesCraniosynostosesHumansOssification, HeterotopicPhenotypecraniofacialcraniosynostosisgene mutationsmalformationskull sutures

Identifiers

PMID28160402
PMCPMC5397362

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.