CURRENT APPROACH TO OSTEOGENESIS IMPERFECTA: CASE STUDIES OF A MOTHER AND SON WITH OSTEOGENESIS IMPERFECTA

Tuba Tülay KOCA*, Tolga Ba?lan, Ülkü Demir, Gülbahar Saraç, Ahmet U?ur Boz

ABSTRACT

Osteogenesis imperfecta (OI) is a genetic disorder that causes bone fragility and fractures in children and adults. OI type 1 is frequently associated with the mutations in collagen genes. It affects many tissues and organs which contain type 1 collagen. OI is classified clinically and radiologically into four major groups based on phenotype and inheritance pattern; however, rare subgroups with unique features have also been described in the recent years. A 38-year-old female patient was admitted to the clinic with a complaint of back pain. Her medical history comprised minor trauma and frequent fractures (shoulder and ankle). The patient was fair-skinned, and her physical examination revealed an increase in thoracic kyphosis, blue sclera, and joint hyperextensibility. The total vertebra T score and Z score were –4.0, and –3.5, respectively, in the dual-energy x-ray absorptiometry examination. The patient was a first-degree relative of her husband. The medical history of her 16-year-old son showed seven fractures (both shoulders, ankle, right wrist, and fingers of the right hand), which were caused by minor traumas. His physical examination findings included bluish sclera, trigonocephaly, triangular face, pectus carinatum, and joint hyperextensibility. Systemic involvement was evaluated in both the patients. The different histories and phenotypic features of the mother and her son with OI plays an important role in understanding the nature of the disease and current approaches.

Keywords: Osteogenesis imperfecta, osteoporosis, pathologic fracture.