Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period.

Pediatrics - 1 May 2007

Yetman Anji T, Beroukhim Rebecca S, Ivy Dunbar D, Manchester David

Abstract excerpt

We describe 5 patients who presented with musculoskeletal abnormalities in the neonatal period. All patients were initially suspected to have Larsen syndrome or Beals syndrome but were subsequently diagnosed with a TGFBR2 mutation diagnostic of Loeys-Dietz syndrome. Patients had progressive aorti...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Aortic Aneurysm, Thoracic
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Protein Serine-Threonine Kinases

Share to Receptor, Transforming Growth Factor-beta Type II

Share to Receptors, Transforming Growth Factor beta

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 17470566
DOI: 10.1542/peds.2006-2886
PMCID: PMC3131201

Genes

TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17470566-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period.PMID 17470566Read ↗

Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome?Semantic proximity Read ↗

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.Semantic proximity Read ↗

Genetic Problems, Diagnosis, and Cardiovascular Manifestations of Loeys-Dietz Syndrome.Semantic proximity Read ↗

Obstetric Management of Loeys-Dietz Syndrome.Semantic proximity Read ↗

Clinical features and complications of Loeys-Dietz syndrome: A systematic review.Semantic proximity Read ↗

Loeys-Dietz syndrome: life threatening aortic dissection diagnosed on routine family screening.Semantic proximity Read ↗

Fetal aortic root dilation: a prenatal feature of the Loeys-Dietz syndrome.Semantic proximity Read ↗

Meester-Loeys Syndrome.Semantic proximity Read ↗

A late presentation of Loeys-Dietz syndrome associated with an aortic root aneurysm.Semantic proximity Read ↗

[A pedigree study of Loeys-Dietz syndrome type 4 with skeletal deformity related to a novel TGFβ2 mutation].Semantic proximity Read ↗

Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series.Semantic proximity Read ↗

Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.