Conference abstract

Osteogenesis imperfecta: diagnosis in neonatal period in Cameroon

Pan African Medical Journal - Conference Proceedings. 2021:11(34).01 Dec 2021.
doi: 10.11604/pamj-cp.2021.11.34.1018

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Keywords: Osteogenesis imperfecta, newborns, diagnosis
Abstract

Osteogenesis imperfecta: diagnosis in neonatal period in Cameroon

Ritha Carole Mbono Betoko1,&, Suzanne Ngo Um Sap2,3, Jocelyn Tony Nengom4, Paul Koki Ndombo2,3

1Nylon District Hospital, Douala, Cameroon, 2Faculty of Medicine and Biomedical Sciences, Yaounde, Cameroon, 3Mother and Child Centre, Chantal Biya Foundation, Yaounde, Cameroon, 4Bafoussam Regional Hospital, Bafoussam, Cameroon

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Introduction: Osteogenesis Imperfecta is a genetic disorder of connective tissue characterized by bone fragility. Clinical features vary from one patient to another. Diagnosis of this condition can be considered during pregnancy, at birth or during childhood and rarely in adults. Early onset forms are reported to be severe with high mortality rate during pregnancy or the first hours of life. Few neonatal cases are diagnosed in sub-Saharan Africa. We report a case of neonatal diagnosis of this condition in Cameroon. Case presentation: a male newborn presented with short stature, macrocephaly, and limbs deformities at birth after a vaginal delivery with breech presentation. X-rays were performed and revealed multiple fractures of the upper and lower limbs. Some fractures were already consolidated and two of them were new. Conclusion: the diagnosis of Osteogenesis Imperfecta is usually made through clinical signs. This condition should be considered when newborns present with multiple fractures.