Evidence map›Paper›PMID 36339399›Full record

ReviewFrontiers in endocrinology2022

Genetic conditions of short stature: A review of three classic examples.

Merlin G Butler, Bradley S Miller, Alicia Romano, Judith Ross, M Jennifer Abuzzahab, Philippe Backeljauw, Vaneeta Bamba, Amrit Bhangoo, Nelly Mauras, Mitchell Geffner

Open access · goldAbstract readReview
In one paragraph

Review in Frontiers in endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.5field-weighted citation impact, top 18% 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

9 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Prader-Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review.International journal of molecular sciences · 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

10 authors at 9 institutions in 1 country.

Merlin G ButlerDepartment of Psychiatry & Behavioral Sciences, University of Kansas Medical Center, Kansas City, KS, United States.
Bradley S MillerPediatric Endocrinology, University of Minnesota Masonic Children's Hospital, Minneapolis, MN, United States.
Alicia RomanoDepartment of Pediatrics, New York Medical College, Valhalla, NY, United States.
Judith RossDepartment of Pediatrics, Nemours Children's Health, Wilmington, DE, United States.
M Jennifer AbuzzahabDiabetes and Endocrine Center, Children's Minnesota, Saint Paul, MN, United States.
Philippe BackeljauwCincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, United States.
Vaneeta BambaDivision of Endocrinology, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.
Amrit BhangooPediatric Endocrinology, Children's Health of Orange County (CHOC) Children's Hospital, Orange, CA, United States.
Nelly MaurasDivision of Endocrinology, Nemours Children's Health, Jacksonville, FL, United States.
Mitchell GeffnerThe Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, CA, United States.
Nemours Children's Health System · USChildren's Hospital of Orange County · USChildren's Hospital of Philadelphia · USChildren’s Minnesota - St. Paul Hospital · USNew York Medical College · USUniversity of Cincinnati · USUniversity of Kansas Medical Center · USUniversity of Minnesota Children's Hospital · USUniversity of Southern California · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Noonan, Turner, and Prader-Willi syndromes are classical genetic disorders that are marked by short stature. Each disorder has been recognized for several decades and is backed by extensive published literature describing its features, genetic origins, and optimal treatment strategies. These disorders are accompanied by a multitude of comorbidities, including cardiovascular issues, endocrinopathies, and infertility. Diagnostic delays, syndrome-associated comorbidities, and inefficient communication among the members of a patient's health care team can affect a patient's well-being from birth through adulthood. Insufficient information is available to help patients and their multidisciplinary team of providers transition from pediatric to adult health care systems. The aim of this review is to summarize the clinical features and genetics associated with each syndrome, describe best practices for diagnosis and treatment, and emphasize the importance of multidisciplinary teams and appropriate care plans for the pediatric to adult health care transition.

Indexed as

Prader-Willi SyndromeTransition to Adult CareAdultChildHumansgeneticsgrowth hormoneNoonan syndromePrader-Willi syndromeshort statureTurner syndrome

Identifiers

PMID36339399
PMCPMC9634554
OpenAlexW4306973278

What Socratic 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 Socratic graph.