Childhood Noonan Syndrome Presenting with Severe Pulmonary Stenosis: A Rare Case Report

Authors

  • Akhil Mehrotra Akhil Mehrotra, Chief, Non-Invasive Cardiologist, Pediatric and Adult Cardiology, Prakash Heart Station, D-16, Nirala Nagar, Lucknow, UP, India.
  • Ujala Shakya Ujala Shakya, Cardiac Technician, Prakash Heart Station, D-16, Nirala Nagar, Lucknow, UP, India.
  • Shubham Kacker Shubham Kacker, Lead PMO, Tech Mahindra, New Delhi, India.

DOI:

https://doi.org/10.32553/ijmsdr.v7i3.984

Abstract

Noonan syndrome [NS] is an autosomal dominant inherited condition that can be passed down through families. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. It causes abnormal development in many parts of the body. It is used to be called Turner-like syndrome. Though most of the cases are autosomally inherited some cases may be sporadic. We report a case of 13 year old male child presented to us with features of short stature, dysmorphic facies and severe pulmonary valvular stenosis without any family history of similar illness.

Keywords: Noonan Syndrome, Pulmonary valvular stenosis.

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Published

2023-07-03

How to Cite

Akhil Mehrotra, Ujala Shakya, & Shubham Kacker. (2023). Childhood Noonan Syndrome Presenting with Severe Pulmonary Stenosis: A Rare Case Report. International Journal of Medical Science And Diagnosis Research, 7(3). https://doi.org/10.32553/ijmsdr.v7i3.984

Issue

Vol. 7 No. 3 (2023)

Section

Articles