In 1938, Jarcho and Levin1 first described a syndrome of congenital abnormalities affecting the spine and the thorax. The syndrome described a spectrum of radiological and skeletal anomalies including abnormal vertebral segmentation or formation defects, rib deformities and short trunk dwarfism. In 1978, Solomon et al2 subdivided patients with the above features into 2 distinct phenotypes: spon...

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 ...

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...