A RARE CASE OF ACHONDROPLASIA- SHORT LIMB
Journal Title: Journal of Evidence Based Medicine and Healthcare - Year 2017, Vol 4, Issue 18
Abstract
BACKGROUND A 6-year-old boy was presented to the paediatric department with shortening of all the limbs and delay in growth. Clinical examinations revealed height less than third percentile along with other abnormalities like frontal bossing, midfacial hypoplasia, flattened nasal bridge, short neck and rhizomelic type of shortening of all the limbs. These clinical features raised the diagnosis towards achondroplasia, which was further supported by radiologic evidence. Achondroplasia is a disorder involving growth of bone. The conversion of cartilage to bone is hampered. The affection is particularly seen in the long bones of arms and legs. The characterising features of this disorder are dwarfism, limitation in range of motion at the elbows, enlarged size of head, small fingers, but with normal intelligence. Other complications like apnoea, obesity, recurrent ear infections and lordosis of the spine are often associated with achondroplasia. The basic defect in achondroplasia lies in mutations of the FGFR3 gene. It is an autosomal dominant disorder.
Authors and Affiliations
Ravichander B, Sreemayee Kundu
A STUDY OF PATTERN AND PREVALENCE OF POISONING IN RURAL AREAS OF KANCHIPURAM DISTRICT
BACKGROUND Poison is a substance that causes damage or injury to the body and endangers one's life due to its exposure by means of ingestion, inhalation or contact. Acute poisoning cases form one of the commonest causes...
TROPICAL PULMONARY EOSINOPHILIA- AN ELABORATE CASE SERIES
INTRODUCTION Pulmonary infiltrates with eosinophilia (PIE) syndromes is a motley group of diverse entities, which share common features of chest opacities and peripheral blood eosinophilia. Tropical pulmonary eosinophili...
STUDY OF AWARENESS ABOUT HEPATITIS B AMONG MEDICAL STUDENTS, A VULNERABLE GROUP OF HEALTHCARE WORKERS (HCWS)
BACKGROUND Hepatitis B is a serious global public health problem. Awareness regarding this serious disease (preventable by vaccination) was lacking among majority of healthcare workers. As risk of occupational exposure t...
POST-OPERATIVE MORTALITY IN INTERTROCHANTERIC FRACTURES IN ELDERLY
BACKGROUND Mortality after surgical treatment of hip fracture at the end of one-year ranges from 5- 50% according to western literature. Very few studies on this issue have been done in India. This study aims to answer t...
A CASE SERIES OF CYSTIC LESIONS OF CONJUNCTIVA
INTRODUCTION: Cysticercosis is the most common parasitic disease of the nervous system. The disease occurs when humans become the intermediate host in the life cycle of Taenia solium by ingesting its eggs from contaminat...