Evidence map›Paper›PMID 24700690›Full record

ReviewJournal of dental research2014

Rare bone diseases and their dental, oral, and craniofacial manifestations.

B L Foster, M S Ramnitz, R I Gafni, A B Burke, A M Boyce, J S Lee, J T Wright, S O Akintoye, M J Somerman, M T Collins

Open access · greenAbstract readReview
In one paragraph

Review in Journal of dental research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.

0numbers the graph read from it
0cells of the map it votes in
74citing papers in PubMed
4.0field-weighted citation impact, top 5% 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

74 citing papers in PubMed, 137 citations in OpenAlex.

  1. Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2016
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  19. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2024
    Review
  20. Oral Problems in Brazilian Individuals with Rare Genetic Diseases That Affect Skeletal Development.International journal of environmental research and public health · 2024
    Article

14 more citing papers are in PubMed but not listed here.

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

10 authors at 5 institutions in 1 country.

B L FosterNational Institute for Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA brian.foster@nih.gov.
M S RamnitzNational Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
R I GafniSkeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
A B BurkeSkeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
A M BoyceSkeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA Bone Health Program, Division of Orthopedics and Sports Medicine, Children's National Medical Center, Washington, DC, USA Division of Endocrinology and Diabetes, Children's National Medical Center, Washington, DC, USA.
J S LeeOffice of Clinical Director, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
J T WrightDepartment of Pediatric Dentistry, School of Dentistry, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
S O AkintoyeDepartment of Oral Medicine, School of Dental Medicine, University of Pennsylvania, Philadelphia, PA, USA.
M J SomermanNational Institute for Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
M T CollinsSkeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
National Institute of Dental and Craniofacial Research · USNational Institutes of Health · USChildren's National · USUniversity of North Carolina at Chapel Hill · USUniversity of Pennsylvania · US

Funding

Skeletal Disorders and Mineral Homeostasis SectionZIADE000649 · NIDCR · NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH · PI COLLINS, MICHAEL · 2009 to 2025
$32.8M
Laboratory of Oral Connective Tissue BiologyZIAAR041196 · NIAMS · NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES · PI SOMERMAN, MARTHA · 2013 to 2021
$8.9M
NIDCR DIR Clinical TrainingZIEDE000727 · NIDCR · NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH · PI MAYS, JACQUELINE · 2009 to 2025
$6.8M
Clinical Research of Oral Connective Tissue ProgramZIAAR041197 · NIAMS · NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES · PI SOMERMAN, MARTHA · 2013 to 2021
$1.6M
Dental outcomes in Fibrous Dysplasia/McCune Albright SyndromeR56DE022932 · NIDCR · UNIVERSITY OF PENNSYLVANIA · PI AKINTOYE, SUNDAY O · 2013 to 2013
$200k
Intramural NIH HHSNIDCR NIH HHS 1R56DE022932NIDCR NIH HHS R56 DE022932
6 · The paper itself

Abstract

Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. Though many of these conditions are individually rare, the total number of people affected is great. These disorders often include dental-oral-craniofacial (DOC) manifestations, but the combination of the rarity and lack of in-depth reporting often limit our understanding and ability to diagnose and treat affected individuals. In this review, we focus on dental, oral, and craniofacial manifestations of rare bone diseases. Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease). For each condition, we highlight causative mutations (when known), etiopathology in the skeleton and DOC complex, and treatments. By understanding how these 4 foci are subverted to cause disease, we aim to improve the identification of genetic, molecular, and/or biologic causes, diagnoses, and treatment of these and other rare bone conditions that may share underlying mechanisms of disease.

Indexed as

Rare DiseasesBone DiseasesCalcinosisFacial BonesFamilial Hypophosphatemic RicketsFibrous Dysplasia of BoneHumansHyperostosis, Cortical, CongenitalHyperphosphatemiaHypophosphatasiaMouth DiseasesOsteogenesis ImperfectaOsteolysis, EssentialSkullTooth Diseasesfamilial hypophosphatemic ricketsfibrous dysplasia of boneGorham-Stout diseasehyperphosphatemic familial tumoral calcinosishypophosphatasiaosteogenesis imperfecta

Identifiers

PMID24700690
PMCPMC4107543
OpenAlexW2170288464

What OpenQuestion holds

Textmetadata
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.