Schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphy-seal dysplasia. Mutations in SWI/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) gene are responsible for the disease. The present report describes, for the f...

PURPOSE Axenfeld-Rieger (AR) is an autosomal dominant disorder with phenotypic heterogeneity characterized by anterior segment dysgenesis, facial bone defects, and redundant periumbilical skin. The PITX2 gene, on chromosome 4q25, and the FOXC1 gene, on chromosome 6p25, have been implicated in the different phenotypes of the syndrome through mutational events. Recently, the CYP1B1 gene was found...

To understand the role of connexin43 (Cx43) in epidermal differentiation, we reduced Cx43 levels by RNA-mediated interference knockdown and impaired its functional status by overexpressing loss-of-function Cx43 mutants associated with the human disease oculodentodigital dysplasia (ODDD) in rat epidermal keratinocytes. When Cx43 expression was knocked down by 50-75%, there was a coordinate 55-65...

Introdouction: Fibrous dysplasia is a benign fibro-osseous lesion that affects craniofacial bones including the maxilla and mandible. In the most cases of fibrous dysplasia of facial bones, radiographic findings represent lucent or mixed radiolucent-radiopaque lesion with ill-defined borders and gradual blending of its border with adjacent bone . In this presentation, a patient suffering ...

Introduction: Axoplasmic transport blockade has been demonstrated in acute experimental glaucoma animals but not documented childhood glaucoma. The purpose of this study was to detail findings and axoplasmic status one eye a two-year old male with Coat’s disease using the two eyes from 10-month-old female Oculodentodigital Syndrome (ODDS) as controls for background transport. We document first-...

Developmental dysplasia of the hip (DDH) or congenital hip dysplasia (CDH) is the most prevalent developmental childhood hip disorder. It includes a wide spectrum of hip abnormalities ranging from dysplasia to subluxation and complete dislocation of the hip joint. The natural history of neglected DDH in adults is highly variable. The mean age of onset of symptoms is 34.5 years for dysplastic DD...

Background & objective: Changes in submucosal vascularization and inflammation, determined by immunohistochemistry staining, were shown to be correlated with the development of dysplasia and invasiveness of epithelial cells in premalignant and malignant lesions. This study evaluated changes in sections routinely stained with Hematoxylin and Eosin (H&E;) in orde...

the rare form of skeletal dysplasia is thanatophoric dysplasia. the meaning for thanatophoric dysplasia is death bearing which is derived from greek word. it occurs 1in 20,000 to 50,000. it is mainly due to mutations in the fibroblast growth factor receptor 3gene. features of thanatophoric dysplasia are frontal bossing, prominent eyes, narrow thorax, protruded abdomen and bowed legs. the knowle...

introduction: leukoplakia is the most common precancerous lesion of the oral mucosa and may range microscopically form benign hyperkeratosis to invasive squamous cell carcinoma. p53 is a tumor suppressor protein; whereas, proliferative cell nuclear antigen (pcna) is a proliferative marker. the aim of this study was to evaluate the immunohistochemical expressions of p53 and pcna in oral leukopla...