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International Journal of
Medical and Health Research
ARCHIVES
VOL. 6, ISSUE 12 (2020)
Achondroplasia syndrome with clinical manifestations of pneumonia and symptoms of parental social isolation
Authors
Samira Khanmohammadi, Hamideh Partoazam, Azam Hajibeglo, Malihe Kabusi, Karvan Bekmaz
Abstract
Introduction: Achondroplasia is an autosomal dominant genetic disorder and is one of the leading causes of dwarfism. In this disorder, the FGFR-3 protein or FGF receptor, which is involved in bone cartilage production, has been mutated. The disease affects one in every 40,000 to 150,000 births. Achondroplasia is a type of congenital short stature that is characterized by short limbs. The main problem in these patients is the conversion of cartilage to bone in the growth plates, especially in the long bones of the limbs. The average height of a man with achondroplasia is about 130 cm and a woman with achondroplasia is about 124 cm. The trunk of these patients usually has no particular problem and the shortness is more in their limbs. Achondroplasia is a genetic disorder and is one of the leading causes of dwarfism. A case of achondroplasia syndrome with clinical manifestations of pneumonia and symptoms of parental social isolation has been reported in this study. Case report: In this report, a ten-month-old female infant with achondroplasia was observed with clinical manifestations of pneumonia with increased body temperature, coughing, vomiting, anorexia, and wheezing. Blood tests showed; WBC= 12900 µl, ESR= 30, CRP= +1. The patient was treated with ceftriaxone, vial salamol, bromhexine, ondansetron, and acetaminophen ampoules. On the third day of hospitalization, the patient's fever was stopped and blood test was repeated; ESR= 13, WBC= 7900 µl. Conclusion: According to the present report, it is recommended that in infants with achondroplasia, the increase in body temperature and the WBC, ESR tests should be considered, and the necessary measures should be taken to treat the disease. Also, attention should be paid to the social isolation of parents and necessary measures should be taken in their regard.
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Pages:80-82
How to cite this article:
Samira Khanmohammadi, Hamideh Partoazam, Azam Hajibeglo, Malihe Kabusi, Karvan Bekmaz "Achondroplasia syndrome with clinical manifestations of pneumonia and symptoms of parental social isolation". International Journal of Medical and Health Research, Vol 6, Issue 12, 2020, Pages 80-82
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