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

A case of thanatophoric dysplasia: the early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis.

Fetal diagnosis and therapy - 1 Jan 2008

Wong H S, Kidd A, Zuccollo J, Tuohy J, Strand L, Tait J, Pringle K C

Abstract excerpt

OBJECTIVE: To present the early 2D and 3D ultrasound findings and the molecular confirmation in a case of thanatophoric dysplasia. METHODS: On ultrasound examination, there was frontal bossing, increased nuchal translucency and short limbs at 12 weeks' gestation and a small thorax and short and bowed long bones on 3D at 16 weeks. Amniocentesis and DNA analysis confirmed the mutation of FGFR3 gene indicating...

Read the complete abstract on PubMed

Topics

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

Share to FGFR3 gene
Share to Imaging, Three-Dimensional

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pregnancy

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to Thanatophoric Dysplasia

Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 18504386
DOI: 10.1159/000132411

Genes

FGFR3

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

A case of thanatophoric dysplasia: the early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis.PMID 18504386Read ↗

Thanatophoric dysplasia type I.Semantic proximity Read ↗

Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3.Semantic proximity Read ↗

Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia.Semantic proximity Read ↗

Thanatophoric dysplasia: roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patient.Semantic proximity Read ↗

Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis.Semantic proximity Read ↗

Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.Semantic proximity Read ↗

Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.Semantic proximity Read ↗

Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II.Semantic proximity Read ↗

Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia.Semantic proximity Read ↗

The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3-related skeletal dysplasias.Semantic proximity Read ↗

Molecular testing strategies in the evaluation of fetal skeletal dysplasiaSemantic proximity Read ↗

Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.Semantic proximity Read ↗

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