To theEditor:We readwith interest the report ofBurkitt lymphoma in a child with Joubert syndrome [1], which highlights the observation that patients with congenital malformations may be at increased risk of developing malignances [2,3]. We recently cared for a 5-year-old boy with osteogenesis imperfecta who also developed a Burkitt lymphoma. The family history was significant for a father and t...

Keywords Disease name and synonyms Definition/Diagnosis criteria Differential diagnosis Frequency Clinical description Etiology Diagnostic methods Management Treatment Genetic counselling References Abstract Osteogenesis imperfecta (OI) is a group of inherited diseases responsible for varying degrees of skeletal fragility. Minimal trauma is sufficient to cause fractures and bone deformities. A ...

Subjects, methods, and results I assessed 22 infants and children with fractures (mean age 6 months) who were the subjects of proceedings for child protection (19) or whose parents had been charged with causing their injuries (three). I scrutinised the medical notes, court papers, and x ray films for evidence of metabolic bone disease, particularly osteogenesis imperfecta (using the classificat...

manifestations that are regarded nontypical for the full-blown disease. Case report A 35-year-old G2P1 Caucasian woman had her first-trimester ultrasound evaluation. The histological picture was typical of osteogenesis imperfecta type II/III. The combination of severe distortion of the limb bones with rib and limb fractures, in association with the above histopathology, permitted the diagnosis ...

The correct distinction between osteogenesis imperfecta and non-accidental injury (NAI) is an emotive subject upon which the fate of a child can depend. It has been the subject of strongly worded papers and letters by experts. 1-5 Although the frequency, clinical features, and skeletal effects of NAI are not in question, much new knowledge on osteogenesis imperfecta has bypassed the general pae...

Osteogenesis imperfecta (OI) is a group of genetic heterogeneous connective tissue disorders characterized by increased bone fragility and susceptibility to fractures. Laboratory diagnosis relies on time-consuming and cost-intensive biochemical and molecular genetics analyses. Therefore, it is desirable to identify and establish new diagnostic markers for OI that are reliable, cost-effective an...

Our clinical files on osteogenesis imperfecta are brought up-to-date reviewing a total of 33,555 cases admitted between 4/XII/48 and 31/VIII/76. From these, 5 clinical cases were found. The extreme rareness of this regional pathology in our Cátedra y Sericio de Pediatría, which is the largest concentration center in Paraguay had led us to make this publication. From our casuistics, we may singl...