18 May 2022: Articles
Mutations in and Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta
Congenital defects / diseases
Nelimar Cruz-Centeno A* , Jean F. Saenz-Maisonet C , Paola M. López-Dones D , Alberto Santiago-Cornier A , Victor N. Ortiz-Justiniano ADOI: 10.12659/AJCR.935526
Am J Case Rep 2022; 23:e935526
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 |