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Article

Genetic diagnosis of macrotia in PIK3CA-Related Overgrowth Spectrum (PROS) and long-term outcome of otoplasty: a case report and literature review.

Brazilian journal of otorhinolaryngology - 1 Jan 2026

Chen Lili, Hu Xuerui, Li Jingwen, Li Chenlong, Ma Jing, He Aijuan, Fu Yaoyao, Zhang Tianyu

Abstract excerpt

OBJECTIVES: PIK3CA-Related Overgrowth Spectrum (PROS) is a highly heterogeneous disease. Facial Infiltrating Lipomatosis (FIL) is a rare PROS subset, and its atypical phenotypes, such as macrotia, present diagnostic and therapeutic challenges due to limited data. This study aims to detail the diagnostic and long-term management procedures for an extremely rare case of Macrotia associated with PROS/FIL. METHODS:...

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Identifiers

PMID: 41650668
DOI: 10.1016/j.bjorl.2026.101766
PMCID: PMC12906185

Genes

PIK3CA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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