Medicine, Health & Food
Volume: 142 , Issue: 1 , February Published Date: 05 February 2024
Publisher Name: IJRP
Views: 339 , Download: 279 , Pages: 62 - 67
DOI: 10.47119/IJRP1001421220246042
Publisher Name: IJRP
Views: 339 , Download: 279 , Pages: 62 - 67
DOI: 10.47119/IJRP1001421220246042
Authors
# | Author Name |
---|---|
1 | Irving Burham Sulistya |
2 | Budi Windarta |
Abstract
Background:Achondroplasia is one of the most common types of skeletal dysplasia which causes short stature (dwarfism). Almost all types of achondroplasia are caused by unidentified genetic mutations in the fibroblast growth factor receptor type 3 (FGFR3) gene. Champagne Glass Pelvic appearance is a typical radiological sign of achondroplasia that occurs due to flattening of the iliac blades, increased acetabular angle and small sacroiciatic notch. Case Presentation:A 2 month old baby was reported short of breath while undergoing treatment in the Pediatric Intensive Care Unit (PICU). Laboratory examination showed abnormal results with hematocrit 32.4 g/dL, platelets 585fl, CMPV 8.5 g/dL, Procalcitonin 0.500 vol%, segment 39.6 g/l, monocytes 14.5 vol%. On babygram radiology examination, there was an increase in bronchovascular pattern and homogeneous opacity in the bilateral lungs with an air bronchogram (+). The patients heart had cardiomegaly with CTR>0.6. The ribs appear flat and narrow and the superior extremities appear bowed. The lower extremities appear bowed with a champagne glass appearance on the pelvic bones. Conclusion:Various clinical and radiological findings can be found in someone who has achondroplasia. Genetic, clinical and radiological examinations are important to confirm the diagnosis of achondroplasia. The Champagne Glass Appearance radiological picture is very important in suspecting someone has achondroplasia.