Evidence map›Paper›PMID 20104614›Full record

ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2010

Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature.

Manu S Raam, Benjamin D Solomon, Stavit A Shalev, Maximilian Muenke

Open access · hybridAbstract readCase ReportsReview
In one paragraph

Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
1.5field-weighted citation impact, top 19% of its field
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

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.

  1. Syndromes associated with holoprosencephaly.American journal of medical genetics. Part C, Seminars in medical genetics · 2018
    Pooled it
  2. Article
  3. Secondary metopic craniosynostosis after posterior cranial decompression in cloverleaf skull deformity.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024
    Article
  4. Article
  5. Article
  6. Cranial sutures: a multidisciplinary review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2013
    Review
  7. The human calvaria: a review of embryology, anatomy, pathology, and molecular development.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2012
    Review
  8. Review
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 at 4 institutions in 4 countries.

Manu S RaamHoward Hughes Medical Institute and the National Institutes of Health, USA.
Benjamin D Solomon
Stavit A Shalev
Maximilian Muenke
Emek Medical Center · ILHoward Hughes Medical Institute · USInstitut thématique Génétique, génomique et bioinformatique · FRSynlab Czech (Czechia) · CZ

Funding

Genetics of Brain DevelopmentZIAHG000209 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI KRUSZKA, PAUL · 2009 to 2020
$18.2M
Genetics of Brain DevelopmentZ01HG000209 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI MUENKE, MAXIMILIAN · 2002 to 2008
$2.1M
Howard Hughes Medical InstituteIntramural NIH HHS Z01 HG000209
6 · The paper itself

Abstract

Holoprosencephaly (HPE) and craniosynostosis are separate conditions that have occasionally been observed to occur simultaneously in the same patient. Here, we compile patients with both conditions who have been documented in the literature thus far; moreover, we report on two additional siblings who have not been previously described. We also compare the clinical features of these patients and discuss the previously hypothesized possibility of an independent association including both HPE and craniosynostosis.

Indexed as

SiblingsAbnormalities, MultipleAdolescentChildCraniosynostosesFemaleHoloprosencephalyHumansMale

Identifiers

PMID20104614
PMCPMC2814953
OpenAlexW2034833134

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.