Abstract

Introduction: Osteogenesis Imperfecta also known as brittle bone disease is a heterogeneous disorder which is rare and characterized by bone fragility, multiple fracture, bone deformity and short stature.1 It has varying degree of classification based on varying degree of fragility and various clinical presentations.2 Osteogenesis imperfecta (OI) is a rare skeletal dysplasia, with an incidence of 1/15,000–20,000.3 Case report: A 7-month-old male child visited our hospital for fever cough, cold & breathlessness. Ultrasonography at 8th month revealed mild polyhydramnios with Fetal growth retardation and shortening of fetal long bones of upper and lower limb & 9th month Ultrasonography revealed moderated Polyhydramnios with short limb Dwarfism. On head to toe examination, patient had triangular shaped face with broad forehead, blue sclera, short neck short statured limbs with cylindrical like appearance that is circumferential fat pads, both the hips and knees were flexed and rotated inwards. Barrel shaped rib cage was present. Discussion: OI, commonly known as brittle bone disease, is a hereditary ailment that includes a diverse range of illnesses. It is characterised by a propensity for bone fractures, which can range in severity from a minor break to a prenatal fracture. Blue sclera, DI, hyperlaxity of ligaments and skin, hearing impairment, small height, and bone abnormalities are further characteristic clinical symptoms.11 Sillence et al categorised OI into four kinds based on their clinical severity and genetic characteristics because OI is a diverse disease with different clinical presentations.12 Conclusion: In conclusion, experimental treatments including gene based therapy and bone marrow and stem cell transplantation offer prospective treatments for OI. But these methods are not yet prepared for clinical testing.15 There should be availability of these approaches in each tertiary care center for better diagnosis & treatment of osteogenesis imperfecta.

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