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Article

Down syndrome, achondroplasia and tetralogy of Fallot.

Neonatology - 1 Jan 2008

Dabir Tabib, McCrossan Brian A, Sweeney Louise, Magee Alex, Sands Andrew J

Abstract excerpt

This paper describes a female infant with achondroplasia, Down syndrome and tetralogy of Fallot. Down syndrome and achondroplasia were confirmed by karyotyping and presence of a common fibroblast growth factor receptor 3 mutation (Gly380Arg), respectively. The clinical course was complicated by pulmonary hypoplasia and subsequent intractable respiratory failure secondary to the combination of congenital...

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Identifiers

PMID: 18196933
DOI: 10.1159/000113310

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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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