A Life of fragility.... Osteogenesis imperfecta a case report / Janet J. Santiago.

Includes appendices and bibliographical references.

ABSTACT: Osteogenesis imperfecta, also known as "brittle bone disease" is one of the most common groups of inherited disorders of connective tissue which renders those affected susceptible to fractures after minimal trauma. As a result, people with this disorder may spend a considerable amounr of time immobilized or wheelchair-bound. Described herein in a case of a 28 year old Filipina presenting with a short stature, barrel chested, with bony deformities such as bowing and angulation of the extremities due to spontaneous fractures obtained after a mild trauma, and noticed in the patient as early as eleven months old. Review of family history revealed that two other sisters also presented with the same condition. Patient was brought in due to respiratory failure and was eventually intubated. Her lengthened hospital stay was due to difficulty in weaning from the mechanical ventilator due to restrictive lung disease manifested as kyphoscoliosis causing impairment of ventilatory function, and recurrent infections brought sbout by ventilator-associated pneumonia, nosocomial pneumonia and its immunocompromised state.

Research - Department of Medicine