Bonafe, L., Cormier-Daire, V., Hall, C., Lachman, R., Mortier, G., Mundlos, S., Nishimura, G., Sangiorgi, L., Savarirayan, R., Sillence, D., Spranger, J., Superti-Furga, A., Warman, M. and Unger, S. (2015) Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision. American Journal of Medical Genetics Part A, 167, 2869-2892.
https://doi.org/10.1002/ajmg.a.37365

has been cited by the following article:

• TITLE: Radiographic Features of Osteogenesis Imperfecta about a Female Sibship

  AUTHORS: B. M. A. Tiemtore-Kambou, A. M. Napon, N.-A. Ndé-Ouédraogo, A. Koutou, I. F. N. Sieba, I. Ouédraogo, O. Diallo, R. Cissé

  KEYWORDS: Osteogenesis Imperfecta, Familial Involvement, Female, Radiological Features, Recessive Mode

  JOURNAL NAME: Open Journal of Medical Imaging, Vol.10 No.1, March 20, 2020

  ABSTRACT: Osteogenesis imperfecta (OI) belongs to a group of congenital osteoporosis which hallmark feature is “affecting skeleton, increasing bone fragility that fracture easily and decreasing bone density due to quantitative and/or qualita-tive abnormalities”. We report a female sibling’s involvement in 3 cases with probable recessive inheritance pattern. Only female aged between 5 and 13 years were affected with skeletal lesions in the lower limbs. The boy of this family had no skeletal or extra-skeletal lesions. Their parents had no affection and no bond of consanguinity. The observed malformations can be classified as type V or VI according to Sillence’s clinical classification. Lack of genetic test in our context has limited accuracy of the diagnosis as new data evoke a genetic classification into 12 types that leading an effective therapeutic management.