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
Keywords
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- EP ID EP215048
- DOI 10.18410/jebmh/2017/207
- Views 107
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