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Article

Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester.

Prenatal diagnosis - 1 Jul 2004

Michel-Calemard Laurence, Lesca Gaëtan, Morel Yves, Boggio Dominique, Plauchu Henri, Attia-Sobol Jocelyne

Abstract excerpt

This is the first report of a fetus affected with campomelic acampomelic dysplasia presenting with increased nuchal translucency. Ultrasonography at 13 weeks of amenorrhea showed a nuchal translucency 5.6 mm thick. The karyotype performed on amniotic fluid cells was normal (46,XY). Ultrasonography at 22 weeks revealed a normal femoral length and female genitalia. A second amniocentesis was performed to confirm...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15300742
DOI: 10.1002/pd.935

Genes

SOX9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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