Key clinical message
Early forms of Osteogenesis Imperfecta should be considered as main etiology of bone deformities in newborns. Prenatal diagnosis and genetic counselling should be improved in Africa. Management of these children remain difficult in low income countries.
INTRODUCTION:
Osteogenesis Imperfecta (OI) is a group of inherited disorders of connective tissue due to mutations in one of the two genes encoding for type 1 collagen [1] . Clinical features include bone fragility and low bone mass resulting in bone fractures, bone deformity and growth impairment. This disorder affects approximately 0.3-0.7/10.000 births[2]. Age at diagnosis varies depending on the OI type. TheSillence classification reported four types depending on clinical, radiological and genetic features [3]. This classification was extended by some authors to include new genetic forms of OI due to recessive inherited mutations [4]. Type II and III are the most severe forms with high mortality rate during antenatal and neonatal period. In sub-Saharan Africa, few cases of neonatal diagnosis have been described [5]. We report two cases of neonatal diagnosis of this rare condition in Cameroon.
CASE HISTORY