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...

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...

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...

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...

BACKGROUND Type V osteogenesis imperfecta is characterized by hyperplastic callus formation and interosseus membrane calcification. CASE CHARACTERISTICS A 16-year-old boy who presented with history of recurrent fractures, had hard persistent swellings at fracture sites, and had radiographic features of hyperplastic callus and interosseus membrane calcification. OUTCOME Sequence analysis of ...

We report the progressive otic capsule demineralization around the membranous labyrinth and facial nerve in an adult patient with osteogenesis imperfecta tarda. Whereas the initial CT scan showed bandlike, undermineralized pericochlear areas, 2 years later, repeat CT performed because of hearing deterioration showed progression of these findings to the promontory, the round window niche, and th...

www.thelancet.com Published online August 6, 2013 http://dx.doi.org/10.1016/S0140-6736(13)61531-7 1 Children and adolescents with osteogenesis imperfecta have numerous fractures, often after what would otherwise seem trivial trauma. Even in mild disease, the risk of breaking a long bone (femur, tibia, fi bula, humerus, radius, or ulna) is about 100 times higher than in the general population. A...