purpose: congenital third nerve palsy was generally thought to exist in isolation without associated abnormalities. in this report, we present a case of congenital third nerve palsy in osteogenesis imperfecta. methods: a 6-month-old girl with osteogenesis imperfceta presented with ptosis and large incomitant exotropia in left eye (le) at birth. ocular examination revealed total third nerve pals...

Introducción. La coxa vara es una disminución del ángulo cervicodiafisiario (<110°) y se puede presentar hasta en el 10% de los pacientes con osteogénesis imperfecta (OI), siendo más frecuente tipo III. Sus manifestaciones clínicas son alteración la marcha, acortamiento pierna, genu valgo dolor. Presentación casos. Varones 13 años 8 OI III, signo positivo Trendelenburg, movilidad articular a...

Posterior urethral valve is the commonest cause of both urinary tract obstruction and chronic renal disease in male children. The patients may present with complications such as impaired function, infection, or anaemia. Reports abound about association other congenital defects posterior but few studies have reported this osteogenesis imperfecta. An 8-year-old on management for imperfecta who pr...

conclusions although most authors believe that general anesthesia following fiberoptic intubation is the preferred method for oi patients, it is likely that spinal anesthesia is acceptable in such patients. although it is technically difficult, the procedure can be performed by expert anesthesiologists. introduction the choice of anesthetic technique in patients with osteogenesis imperfecta (oi...

amelogenesis imperfecta (ai) is a disorder of tooth development where there is an abnormal formation of enamel or the external layer of teeth. the aim of this study was to screen mutations in the four most important candidate genes, enam, klk4, mmp20 and fam83h responsible for amelogenesis imperfect.geneomic dna was isolated from five iranian families with 22 members affected with enamel malfor...

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...

Nerve growth factor (NGF) is important for the development and the differentiation of neuronal and non-neuronal cells. NGF binds to specific low- and high-affinity cell surface receptors, respectively, p75(NTR) and TrkA. In the present study, we examined by immunohistochemistry the expression patterns of the NGF, p75(NTR), and TrkA proteins during human fetal tooth development, in order to bett...

Objective. To evaluate the difference between chronological and dental age, calculated by Willems and Cameriere methods, in various skeletal patterns according to Steiner's ANB Classification. Methods. This retrospective cross-sectional study comprised the sample of 776 participants aged between 7 and 15 years (368 males and 408 females). For each participant, panoramic images (OPT) and laterol...

Defective enamel formation is the defects occurring at the stages of enamel formation. Amelogenesis imperfect (AI) is a hereditary disorder that causes developmental disturbances in the structure of enamel. Quantitative defects in matrix formation leads to hypoplastic form of Amelogenesis imperfecta. Inadequate mineralization of matrix leads to hypocalcification and hypomaturationvariants. It i...