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