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Article

Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.

Birth defects research - 1 Nov 2020

Abell Katherine, Tolusso Leandra, Smith Nicki, Hopkin Robert, Vawter-Lee Marissa, Habli Mounira, Riddle Stefanie, Calvo-Garcia Maria A, Guan Qiaoning, Bierbrauer Karin, Hwa Vivian, Saal Howard M

Abstract excerpt

Proteus syndrome is a mosaic genetic overgrowth disorder caused by a postzygotic, mosaic activating mutation in AKT1. Rare prenatal presentations include segmental tissue overgrowth, and skeletal and CNS anomalies. We present the first report of prenatally diagnosed and molecularly confirmed Proteus syndrome. Prenatal imaging identified megalencephaly, brain and eye malformations, focal soft tissue enlargement,...

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PMID: 32935482
DOI: 10.1002/bdr2.1801

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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