A rare case report of Joubert syndrome related disorder: Overlap of OFD type Ii & Type Vi
Journal Title: International Journal of Medical and Health Research - Year 2019, Vol 5, Issue 3
Abstract
Joubert syndrome and related disorders (JSRD) are a clinically and genetically heterogenous group of disorders characterized by hypoplasia of the cerebellar vermis and developmental delay. The hallmark for diagnosis is molar tooth sign on MRI. Here we present a rare case of Joubert syndrome with Orofacial digital defects, an overlap of type II and type VI.
Authors and Affiliations
Dr. Snigdha Ganta, Dr. Manas Ranjan Sahoo
Keywords
Related Articles
- EP ID EP584560
- DOI -
- Views 146
- Downloads 0
Factors associated with the quality of family planning services rendered to women of reproductive age at two health facilities in Nairobi County, Kenya
Background: Family planning is highly beneficial to women’s overall health. Improving quality care has been a necessary goal for family planning programs worldwide and the government of Kenya in collaboration with other...
Role of high flexion total knee replacement in Indian scenario
This study was carried out between January 2016 & December 2016 to analysis the clinical and functional outcome of total knee replacement in Indian patients with high flexion posterior stabilized knee prosthesis. The ran...
Hemoglobin status and prevalence of anemia among the women of Jammu and Kashmir population: A cross sectional study
In the present study examined the hemoglobin status in women of jammu & kashmir population was done and compaired between differnt groups Method: Total 500 women were tested for hemoglobin status. A hemoglobin level was...
Xylitol: A Novel Remineralizing Agent: A Review
Despite paramount advancement in preventive strategies, dental caries still remains a global health problem for both children and adults. Traditionally, caries have been treated by removing the affected tooth structure a...
Therapeutic role of glucosamine, chondroitin sulfate and ώ -3 fatty acids in arthritis
Sometime ago, Glucosamine emerged as a natural supplement for arthritis patients that not only relieves arthritis symptoms, but also maintains joint health. However, when it comes to actually rebuilding cartilage, Glucos...