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Abstract Ref Number = APCP858
Poster Presentation
CASE REPORT OF SUSPECTED OSTEOGENESIA IMPERFECTA AT TYPE C HOSPITAL IN SOUTH BORNEO WITH MINIMAL FACILITIES
Ayu Juniarti
Background : Osteogenesis imperfecta (OI) is a group of rare inherited disorders of connective tissue with the common feature of excessive fragility of bones caused by mutations in collagen. Diagnosis is mainly based on the clinical features of the disorder. We report, the case of a male neonate delivered to a 29-year-old para 2 female at Balangan Hospital, South Borneo with no family history suggestive of OI. He had clinical features of a type II OI and symtomatic management was instituted, but he died on the 15th day of life
Case Presentation Summary : OI is a rare inherited disorder. This case has been reported as one of the few cases coming from Indonesia. This report from Balangan South Borneo for more alertness to identify the case of babies who may have OI. There is still need for further research toward improved morbidity of the disease and possibly a cure
Learning Points/Discussion : Diagnostic OI in type c hospital with minimal facilities
Keywords: Osteogenesis imperfecta Brittle bone disease Fragile bone disease Type c hospital
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