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

Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases.

Clinical dysmorphology - 1 Oct 2008

Adès Lesley C

Abstract excerpt

Loeys-Dietz syndrome (LDS) is a recently recognized arterial aneurysm syndrome because of heterozygous mutations in TGFBR1 or TGFBR2. Two subtypes have been delineated: LDS I, with features including craniosynostosis, hypertelorism and cleft palate and/or bifid uvula, and LDS II, wherein the face is reportedly normal. The most salient feature in LDS, whether type I or II, is of a generalized arteriopathy. The...

Read the complete abstract on PubMed

Topics

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

Share to Aortic Aneurysm
Share to Craniofacial Abnormalities
Share to Face

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Maxillofacial Development

Share to Receptor, Transforming Growth Factor-beta Type I

Share to Receptor, Transforming Growth Factor-beta Type II

Share to Receptors, Transforming Growth Factor beta

Share to Syndrome

Source

Identifiers

PMID: 18978651
DOI: 10.1097/MCD.0b013e328303e5d3

Genes

TGFBR1
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases.PMID 18978651Read ↗

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 ↗

Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation.Semantic proximity Read ↗

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

Relationship between phenotypic features in Loeys-Dietz syndrome and the presence of intracranial aneurysms.Semantic proximity Read ↗

Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.Semantic proximity Read ↗

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature DataSemantic proximity Read ↗

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

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

A Case of Penttinen Syndrome With Radiographic Acroosteolysis From Age 3 Years.Semantic proximity Read ↗

Multiple facial milia in patients with Loeys-Dietz syndrome.Semantic proximity Read ↗

Variability, asymmetry and sexual dimorphism in craniofacial anomalies in Loeys-Dietz syndrome 2: geometric morphometric analysis in mice.Semantic proximity Read ↗

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

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