Evidence map›Paper›PMID 25898814›Full record

ReviewAmerican journal of medical genetics. Part A2015

46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.

Edward D Esplin, Hassan Chaib, Michael Haney, Brock Martin, Margaret Homeyer, Alexander E Urban, Jonathan A Bernstein

Abstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in American journal of medical genetics. Part A, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 38% 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

1 citing paper in PubMed, 6 citations in OpenAlex.

  1. 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

7 authors at 2 institutions in 1 country.

Edward D EsplinDepartment of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California.
Hassan ChaibDepartment of Genetics, Stanford University School of Medicine, Stanford, California.
Michael HaneyDepartment of Genetics, Stanford University School of Medicine, Stanford, California.
Brock MartinDepartment of Pathology, Stanford University School of Medicine, Stanford, California.
Margaret HomeyerCenter for Fetal and Maternal Health, Lucile Packard Children's Hospital, Stanford, California.
Alexander E UrbanDepartment of Genetics, Stanford University School of Medicine, Stanford, California.
Jonathan A BernsteinDepartment of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California.
Stanford University · USLucile Packard Children's Hospital · US

Funding

Spectrum Stanford Center for clinical and Translational Research and EducationUL1TR001085 · NCATS · STANFORD UNIVERSITY · PI CULLEN, MARK RICHARD, GREENBERG, HARRY BERNARD · 2013 to 2017
$37.1M
INSTITUTIONAL TRAINING GRANT IN GENOME SCIENCET32HG000044 · NHGRI · STANFORD UNIVERSITY · PI MICHAEL P. SNYDER · 1995 to 2026
$32.2M
Human Genome Array: Technology for Functional AnalysisP50HG002357 · NHGRI · YALE UNIVERSITY · PI SNYDER, MICHAEL P. · 2001 to 2010
$31.9M
Project 3: Effect of Age and Longevity Genes on Epigenomic MechanismsP01GM099130 · NIGMS · STANFORD UNIVERSITY · PI WEISSMAN, SHERMAN MORTON · 2011 to 2015
$11.4M
Stanford Center for Clinical and Translational Education and Research (SCCTER)UL1UL1TR000093 · NCATS · STANFORD UNIVERSITY · PI GREENBERG, HARRY BERNARD · 2012 to 2013
$6.5M
NCATS NIH HHS UL1 TR000093NCATS NIH HHS UL1 TR001085NCI NIH HHS L30 CA179838NHGRI NIH HHS P50 HG002357NHGRI NIH HHS T32 HG000044NIGMS NIH HHS P01 GM099130
6 · The paper itself

Abstract

The association of 46,XY disorder of sex development (DSD) with congenital diaphragmatic hernia (CDH) is rare, but has been previously described with and without other congenital anomalies. Literature review identified five cases of 46,XY DSD associated with CDH and other congenital anomalies. These five cases share characteristics including CDH, 46,XY karyotype with external female appearing or ambiguous genitalia, cardiac anomalies, and decreased life span. The present case had novel features including truncus arteriosus, bifid thymus, gut malrotation, and limb anomalies consisting of rhizomelia and adactyly. With this case report, we present a review of the literature of cases of 46,XY DSD and CDH in association with multiple congenital abnormalities. This case may represent a unique syndrome of 46,XY DSD and diaphragmatic hernia or a more severe presentation of a syndrome represented in the previously reported cases.

Indexed as

Abnormalities, MultipleDigestive System AbnormalitiesDisorder of Sex Development, 46,XYFaciesFatal OutcomeFemaleHand Deformities, CongenitalHeart Defects, CongenitalHernias, Diaphragmatic, CongenitalHumansInfantInfant, NewbornIntestinal VolvulusMaleThymus GlandTruncus Arteriosusadactylybifid thymuscongenital diaphragmatic herniadisorders of sex developmentgut malrotationpolyspleniarhizomeliatruncus arteriosus

Identifiers

PMID25898814
PMCPMC4896393
OpenAlexW2045298985

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.