Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta

Nelimar Cruz-Centeno; Jean F. Saenz-Maisonet; Paola M. López-Dones; Alberto Santiago-Cornier; Victor N. Ortiz-Justiniano

doi:10.12659/AJCR.935526

18 May 2022 : Case report Puerto Rico

Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta

Congenital defects / diseases

Nelimar Cruz-Centeno^1ADEF*, Jean F. Saenz-Maisonet^2CDEF, Paola M. López-Dones^3DEF, Alberto Santiago-Cornier^4ABCD, Victor N. Ortiz-Justiniano^5ADE

DOI: 10.12659/AJCR.935526

Am J Case Rep 2022; 23:e935526

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Figure 1. Chest computed tomography scan showing pectus excavatum deformity in (A) the female patient and (B) the male patient before surgical correction.

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Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta

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