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...

Background and objective:Candida albicans (C. albicans) play a significant role in oral mucosal carcinogenesis. It can be identified using various techniques in cytological smears. But, very few studies have been conducted on histopathological sections using calcofluor white M2R under fluorescent microscopy. Additionally, detection and quantification ...

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...

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 ...

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...

how to cite this article: barzegar m, sayadnasiri m, tabrizi a. epilepsy as a rare neurologic manifestation of oculodentodigitalis dysplasia. iran j child neurol 2012; 6(3): 39-43. oculodentodigitalis dysplasia (oddd) is an extremely rare inherited disorderinvolving the development of the face, eyes, teeth and limbs. in addition,some patients develop neurological problems mostly a spastic parap...

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...