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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Table 1. Patients’ phenotypic characteristics.

	Female patient	Male patient
Pectus excavatum	Yes	Yes
Haller index	4	3.5
Cardiac valvulopathy	No	Mitral valve insufficiency
Pulmonary function tests	Normal	Normal
Short stature	Yes	Yes
Blue sclerae	Yes	Yes
Non-traumatic bone fractures	Yes	Yes
Biconcave flattened vertebrae	Yes	Yes

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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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