Neonatal Presentation of Osteogenesis Imperfecta

Abstract

We report the case of a male patient with one day of life, his mother is a 20-yr-old gravida 1 para 1 male, there is parental consanguinity (second cousin). This patient born alive by Caesarean section in breech presentation with meconiumstained amniotic fluid and birthweight 2275 g (small for gestational age term infant). Physical examination findings in this case are hypotonia, mild cyanosis, large anterior fontanelle, absence of occipital scale, blue sclera, retrognathia and shortening of the long bones whit crepitation. The radiografphic findings show numerous fractures, hyperplastic callus formation and dysplastic changes in metaphyses. He was diagnosed by the geneticists with OI and given genetic counseling to parents. The osteogenesis imperfecta has a genetic background that affects connective tissue integrity, associated with collagen synthesis mutations, being dominant or recessive autosomic inheritance. In the majority of cases, diagnosis of IO is easy on the basis of clinical and radiological findings; for this reason must be important to emphasize on bone structure studies, because patients may develop cystic, dense or fragile changes. This case presents a patient who has osteogenesis imperfecta type II; we pretend to discuss the differences between Ol's types.