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A 16 Years Young Girl with Noonan Syndrome
M T Chowdhury1, N Sheikh, M Haque
1Dr MSI Tipu Chowdhury, Junior Consultant, Department of Cardiology, Cox's Bazar Medical College Hospital, Cox's Bazar, Bangladesh;
Mymensingh Medical Journal : MMJ
|October 29, 2020
Summary
Noonan syndrome, a genetic disorder causing developmental issues like short stature and heart defects, affects 1 in 1000-2500 births. This case highlights a sporadic presentation in a 16-year-old girl.
Area of Science:
- Genetics
- Pediatrics
- Developmental Biology
Background:
- Noonan syndrome is a genetic disorder affecting approximately 1 in 1000-2500 live births.
- It is characterized by a distinctive facial appearance, short stature, congenital heart defects, and skeletal abnormalities.
- The condition can be inherited in autosomal dominant or recessive patterns, or occur sporadically.
Observation:
- A 16-year-old female presented with short stature, shortness of breath, characteristic facial features, and a congenital heart defect.
- The patient had no reported family history of Noonan syndrome, suggesting a sporadic occurrence.
Findings:
- The case presentation aligns with the diagnostic criteria for Noonan syndrome.
- The absence of a family history in this case underscores the possibility of de novo mutations or incomplete penetrance in affected families.
Implications:
- This case contributes to understanding the phenotypic variability and sporadic occurrence of Noonan syndrome.
- Early diagnosis and management are crucial for improving outcomes in individuals with Noonan syndrome.
- Further research into the genetic underpinnings of sporadic Noonan syndrome cases is warranted.
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