Jarcho-Levin syndrome is a rare genetic disorder characterized by respiratory insufficiency and multiple spine and rib abnormalities. It was first described by Jarcho and Levin in 1938. Spondylocostal dysostosis (SCD) and spondylothoracic dysostosis (STD) are the subtypes of Jarcho-Levin Syndrome, which show a hereditary picture. Autosomal dominant, autosomal recessive, and sporadic cases have ...

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...

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...

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 first tim...

it is sometimes difficult to recognize a jaw lesion as osteosarcoma, ossifying fibroma or ‎fibrous dysplasia in routine hematoxylin and ‎eosin staining and a more accurate technique is needed to differentiate these ‎lesions. ‎many studies have shown the potential usefulness of silver-stained nucleolar organizer region (agnor) parameters for the diagnosis of various neoplasms. this study was car...