Evidence map›Paper›PMID 28884971›Full record

ArticleAmerican journal of medical genetics. Part A2017

Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting.

Jasmien Roosenboom, Karlijne Indencleef, Greet Hens, Hilde Peeters, Kaare Christensen, Mary L Marazita, Peter Claes, Elizabeth J Leslie, Seth M Weinberg

Abstract read
In one paragraph

Article 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 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–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

5 citing papers in PubMed.

  1. Review
  2. Parents of Children With Nonsyndromic Orofacial Clefting Show Altered Palate Shape.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2021
    Article
  3. Article
  4. Article
  5. Frontiers in genetics · 2021
    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

9 authors.

Jasmien RoosenboomCenter for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, Pennsylvania.ORCID http://orcid.org/0000-0001-5558-4291
Karlijne IndencleefDepartment of Electrical Engineering, ESAT/PSI, KU Leuven, Leuven, Belgium.
Greet HensMultidisciplinary Cleft Lip and Palate Team Leuven, University Hospitals Leuven, Leuven, Belgium.
Hilde PeetersDepartment of Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Kaare ChristensenDepartment of Epidemiology, University of Southern Denmark, Odense, Denmark.
Mary L MarazitaCenter for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, Pennsylvania.
Peter ClaesDepartment of Electrical Engineering, ESAT/PSI, KU Leuven, Leuven, Belgium.
Elizabeth J LeslieCenter for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, Pennsylvania.ORCID http://orcid.org/0000-0002-5735-1712
Seth M WeinbergCenter for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, Pennsylvania.

Funding

Extending the Phenotype of Nonsyndromic Orofacial CleftsR01DE016148 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2004 to 2018
$19.7M
3D Analysis of Normal Facial Variation: Data Repository and Genetics (Research)U01DE020078 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2009 to 2013
$2.0M
Genetics of Craniofacial Disorders and Related PhenotypesR00DE025060 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LESLIE-CLARKSON, ELIZABETH JANE · 2017 to 2019
$732k
Planning International Orofacial Cleft Genetic StudiesR21DE016930 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L · 2006 to 2007
$293k
NIDCR NIH HHS R00 DE025060NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R21 DE016930NIDCR NIH HHS U01 DE020078
6 · The paper itself

Abstract

Nonsyndromic orofacial clefts (OFCs) are complex traits characterized by multifactorial inheritance and wide phenotypic variability. Numerous studies have shown subtle differences in the faces of unaffected relatives from cleft families compared to controls, the implication being that such outward differences are an incomplete expression reflecting an underlying genetic predisposition. Twins discordant for OFCs provide a unique opportunity to further test this idea, as the unaffected co-twin shares on average 50% (for dizygotic twins) and 100% (for monozygotic twins) of the genetic risk factors as the affected twin. We used 3D surface imaging and spatially-dense morphometry to compare facial shape in a sample of 44 unaffected co-twins and age- and sex-matched unaffected controls (n = 241). Unaffected co-twins showed statistically significant differences in the midface, lateral upper face, and forehead regions, compared to controls. Furthermore, co-twins were characterized by a distinct pattern of midfacial retrusion, broader upper faces, and greater protrusion of the mandible and brow ridges. This same general facial pattern was shown in both unaffected monozygotic and dizygotic co-twin subsets. These results provide additional support that altered facial shape is a phenotypic marker for OFC susceptibility.

Indexed as

AdolescentAdultAgedBrainCephalometryChildChild, PreschoolCleft LipCleft PalateFaceFemaleHumansImaging, Three-DimensionalMaleMandibleMiddle Aged3D imagingfacial morphologyorofacial cleftingspatially-dense morphometricstwins

Identifiers

PMID28884971
PMCPMC5725745

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.