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Article

Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1.

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology - 1 Jan 2015

Zhen L, Pan M, Han J, Yang X, Liao C, Li D Z

Abstract excerpt

Thanatophoric dysplasia (TD) is the most frequent form of lethal skeletal dysplasia. Prenatal diagnosis is commonly accomplished in the second-trimester scan, but occasionally TD is found to be associated with increased nuchal translucency (NT) at first-trimester screening for aneuploidies. TD may not be clearly distinguished from the other skeletal dysplasias. A definite diagnosis can be established by molecular...

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Source

Identifiers

PMID: 25671245
DOI: 10.3109/01443615.2015.1006593

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.

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