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.