Evidence map›Paper›PMID 34504906›Full record

ArticleBone reports2021

Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature.

Shuaa Basalom, Mélissa Fiscaletti, Valancy Miranda, Céline Huber, Guillaume Couture, Régen Drouin, Élise Monceau, Sandrine Wavrant, Johanne Dubé, Outi Mäkitie and 2 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Bone reports, 2021. 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
0.4field-weighted citation impact, top 43% 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

5 citing papers in PubMed, 6 citations in OpenAlex.

  1. PathogenicFrontiers in endocrinology · 2026
    Article
  2. Article
  3. Human genetic defects of sphingolipid synthesis.Journal of inherited metabolic disease · 2025
    Review
  4. Bone fragility and osteoporosis in children and young adults.Journal of endocrinological investigation · 2024
    Review
  5. Frontiers in endocrinology · 2023
    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

12 authors at 7 institutions in 3 countries.

Shuaa BasalomDivision of Medical Genetics, Department of Specialized Medicine, McGill University Health Center, Montreal, QC H4A 3J1, Canada.
Mélissa FiscalettiDepartment of Pediatrics, CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada.
Valancy MirandaMedical Genetics Division, Department of Pediatrics, CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada.
Céline HuberDepartment of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France.
Guillaume CoutureCentre de rhumatologie, CHU Purpan, 31300 Toulouse, France.
Régen DrouinDivision of Medical Genetics, Department of Pediatrics, CHU de Quebec - ULaval, Faculty of Medicine, Université Laval, Quebec City, Canada.
Élise MonceauDepartment of Pediatrics, CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada.
Sandrine WavrantDepartment of Obstetrics and Gynecology, CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada.
Johanne DubéDepartment of Obstetrics and Gynecology, CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada.
Outi MäkitieChildren's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, FI-00014 Helsinki, Finland.
Valérie Cormier-DaireCentre de référence MOC, hôpital Necker, 75015 Paris, France.
Philippe M CampeauMedical Genetics Division, Department of Pediatrics, CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada.
Centre Hospitalier Universitaire Sainte-Justine · CAHôpital Necker-Enfants Malades · FRHôpital Purpan · FRInserm · FRMcGill University Health Centre · CAUniversité Laval · CAUniversity of Helsinki · FI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Calvarial Doughnut Lesions with Bone Fragility (CDL) is an autosomal dominant genetic disease, characterized by low bone mineral density, multiple fractures starting in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. Aubé and colleagues described in 1988 a French-Canadian family of 12 affected members who had a clinical diagnosis of doughnut lesions of the skull, with pathological fractures, osteopenia, "bone in bone" in the vertebral bodies and squaring of metatarsal and metacarpal bones. Herein we study new members of this family. Sequential genetic testing identified a nonsense variant c.148C>T, p. Arg50

Indexed as

Bone fragilityCalvarial doughnut lesions with bone fragilitySGMS2Skeletal dysplasia

Identifiers

PMID34504906
PMCPMC8414042
OpenAlexW3194773524

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.