Evidence map›Paper›PMID 33304690›Full record

ArticleCureus2020

Laurence-Moon-Bardet-Biedl Syndrome: A Rare Case With a Literature Review.

Aneel Kumar, Aamir Husain, Amna Saleem, Uzzam Ahmed Khawaja, Sumaira Virani

Open access · diamondAbstract readCase Reports
In one paragraph

Article in Cureus, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.7field-weighted citation impact, top 25% 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

6 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Megaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report.Clinical medicine insights. Case reports · 2023
    Article
  6. 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

5 authors at 2 institutions in 2 countries.

Aneel KumarPsychiatry and Behavioral Sciences, Jinnah Medical and Dental College, Karachi, PAK.
Aamir HusainOpthalmology, Jinnah Medical and Dental College, Karachi, PAK.
Amna SaleemMedicine and Surgery, Jinnah Medical and Dental College, Karachi, PAK.
Uzzam Ahmed KhawajaInternal Medicine, Jinnah Medical and Dental College, Karachi, PAK.
Sumaira ViraniMedicine and Surgery, Jinnah Medical and Dental College, Karachi, PAK.
Jinnah Medical & Dental College · PKLarkin Community Hospital · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Laurence-Moon-Bardet-Biedl syndrome (LMBBS), a rare autosomal recessive genetic disorder, results from consanguineous marriage. It is a congenital ciliopathy manifesting with primary and secondary characteristics. Primary clinical features include rod and cone dystrophy, polydactyly, central obesity, genital abnormalities, and mental retardation, often presenting as poor schooling skills. Secondary clinical features include developmental delay, speech deficit, brachydactyly/syndactyly, dental defects, ataxia, olfactory deficit, diabetes mellitus (DM), and congenital heart disease. Herein, we report a case of a 15-year-old male with clinical manifestations of LMBBS, namely learning disabilities, night blindness, hypogonadism, polydactyly, polysyndactyly, and obesity. Physicians must be familiar with this syndrome, for which an early diagnosis, multidisciplinary approach, and regular follow-ups can profoundly diminish morbidity and mortality in LMBBS patients.

Indexed as

consanguineous marriagehypogonadismlaurence moon bardet biedl syndromepolydactylyretinitis pigmentosa

Identifiers

PMID33304690
PMCPMC7720918
OpenAlexW3095743047

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.