Abstract
NOONAN SYNDROME-CASE REPORT

M.S. Harika*, Dr G. Ramya Bala Prabha, Sharadha Srikanth, Dr. K. Abbulu

ABSTRACT

Noonan syndrome is a common genetic disorder with multiple congenital abnormalities. It is characterized by congenital heart disease, short stature, a broad and webbed neck, sternal deformity, variable degree of developmental delay, cryptor-chidism, increased bleeding tendency, and characteristic facial features that evolve with age. Molecular genetic testing can confirm the diagnosis in most cases, which has important implications for genetic counseling and management. Physicians should know how to diagnose Noonan syndrome because patients who have it require monitoring for a large number of potential health conditions.[1] Discussion: A 23 year old male patient is a known case of lower respiratory tract infection and cardiomyopathy since 8years and came with complaints of cough with sputum, shortness of breath Grade-3 progressive in male general medicine dapartment. On third day, Webbed neck, small mouth, upturned neck, thin long slender was noticed. During the treatment on the eighth day, the patient developed high grade fever associated with chills and rigors, headache, bodypain for which treatment was given. The patient also developed mild rashes over the back for which no treatment was given. Conclusion: Noonan Syndrome is a rare inherited disorder that can occur sporadically in small number of cases. It is clinically diagnosed based on scoring of characteristic facial dysmorphism, cardiac abnormalities and other deformities. Though confirmation needs demonstration of characteristic mutations, scoring systems can help the diagnostic process.

Keywords: Webbed neck, sternal deformity, bleeding tendency, developmentel delays, molecular genetic testing.


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