In humans, congenital spinal defects occur with an incidence of 0.5-1 per 1000 live births. One of the most severe syndromes with such defects is spondylocostal dysostosis (SCD). Over the past decade, the genetic basis of several forms of autosomal recessive SCD cases has been solved with the identification of four causative genes (DLL3, MESP2, LFNG and HES7). Autosomal dominant forms of SCD ha...

in this case report we will describe a rare association between anhyrotic ectodermal dysplasia (aed) and immunodeficiency and autoimmunity [in our case: idiopathic thrombocytopenic purpura (itp) and crohn disease]. aed is a rare congenital disorder characterized by sparse hair, abnormal teeth and anhidrosis due to lack of eccrine glands. the survey of 87 cases with (aed) revealed only one irrit...

Abstract Background A metaplasia-dysplasia–carcinoma sequence is the most plausible carcinogenic pathway for gallbladder cancer. Although incidence of carcinoma increasing, little known about its precancerous lesions. The aim this study was to determine temporal changes in prevalence low-grade dysplasia (LGD), high-grade (HGD) and adenocarcinoma associated risk factors. Methods We retrospective...

Fibrous dysplasia (FD) is an osseous growth dis-order, producing immature bone and characte-rized by the replacement of normal bone with fibro-osseous connective tissue. It is a bone dys-plasia that has the potential to cause significant cosmetic and functional disturbances, particularly in the craniofacial skeleton. Cra-niofacial fibrous dysplasia is one of the three types of polyostotic fibro...

background & aim: regional odonto dysplasia (rod) is an unusual nonhereditary of teeth with significantly clinical and radiographic features. affected teeth usually remain unerupted or semi-erupted with a discolaration and irregular shape. radiographically these teeth have a large pulp chamber and thin layer of enamel and dentin with similar density. this article is introducing a female patient...

colorectal cancer is the second leading cause of cancer death worldwide. through risk assessment of malignancy in polyps, screening programs can achieve the best results. this study aimed to determine the association between the grade of dysplasia and the location of colorectal polyps. 240 colorectal adenomatous polyps which were referred to department of pathology at rasoul-e-akram hospital be...

intracranial lipomas are congenital malformations. these uncommon lesions have an incidence of 0.1 to 1.7% of all intracranial tumors. most cases are located at midline and 5% are along the sylvian fissures. if symptomatic, seizures are the most common symptom. these tumors are slow growing and have favorable outcome. we report a case of a 25-year-old man whose ct and mri revealed a lesion in r...

Defects in the Notch pathway ligand Dll3 have been identified in the mouse pudgy (Dll3(pu)) and human spondylocostal dysostosis (SD, MIM 277300) mutations. Although these mutations are primarily associated with segmental defects in the axial skeleton and somitic patterning, they also exhibit cranial neurological defects. Therefore we have looked at the expression of Dll3 in the developing mouse...

dysplasia epiphysealis hemimelica is a rare nonhereditary epiphyseal disease that mimics synovial chondromatosis and osteochondroma of the joints. the disease mainly involves long bones of the lower extremities and tarsal bones. herein we report 21-year old woman who presented with pain and limited range of ankle motion, who underwent surgical excision of talus exostosis after preoperative imag...

alveolar ridge is underdeveloped in ectodermal dysplasia (ed). the available treatment plans include fixed, removable or implant-supported prostheses, alone or in combination. a 5 year-old boy was referred for treatment to the department of prosthodontics, tehran university of medical sciences with the chief complaint of missing teeth. prosthodontic treatment was performed to improve masticatio...