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

[Loeys-Dietz syndrome (TGFβR2 mutation) in a 4-year-old child with thoracic aortic aneurysm].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 May 2016

De Potter M-J, Edouard T, Amadieu R, Plaisancié J, Julia S, Hadeed K, Hascoët S, Acar P, Dulac Y

Abstract excerpt

Loeys-Dietz syndrome is a rare form of connective tissue disorder, whose clinical features can resemble those of Marfan syndrome, but with a more unpolished appearance. Recently brought out, this pathology remains little known; however, its consequences may be dramatic. We report on the case of a 4-year-old girl followed for a congenital hip dislocation, in which a systematic exam found increased cutaneous...

Read the complete abstract on PubMed

Topics

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

Share to Aortic Aneurysm, Thoracic
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hip Dislocation, Congenital

Share to Loeys-Dietz Syndrome

Share to Predictive Value of Tests

Share to Receptor, Transforming Growth Factor-beta Type II

Share to Receptors, Transforming Growth Factor beta

Share to Sensitivity and Specificity

Source

Identifiers

PMID: 27017362
DOI: 10.1016/j.arcped.2016.02.001

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Loeys-Dietz syndrome (TGFβR2 mutation) in a 4-year-old child with thoracic aortic aneurysm].PMID 27017362Read ↗

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

Type A Aortic Dissection Caused by Loeys-Dietz Syndrome with Novel Variation.Semantic proximity Read ↗

[Loeys-Dietz syndrome: aortic dissections and aneurysms].Semantic proximity Read ↗

Loeys-Dietz syndrome.Semantic proximity Read ↗

Loeys-Dietz 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 ↗

Ectopia lentis in Loeys-Dietz syndrome type 4.Semantic proximity Read ↗

Marfan syndrome: an update of genetics, medical and surgical managementSemantic proximity Read ↗

Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4.Semantic proximity Read ↗

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

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.Semantic proximity Read ↗

Aneurysm syndromes caused by mutations in the TGF-beta receptor.Semantic proximity Read ↗

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