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Case Studies | Pediatrics | India | Volume 12 Issue 5, May 2023

Multiple Lentigines Syndrome: A Rare Case of Noonan Related Syndrome

Dr. Anjana Krishnan | Dr. Bageshree Seth

Abstract: We report a rare case of an 8 - year - oldmale with features of short stature, hypertelorism, low set ears, hypertrophic cardiomyopathy suggestive of Noonan syndrome. Noonan syndrome is an autosomal dominant disorder resulting in mutations in genes involved in the RAS - MAPKpathway. On examination of our patient, he was found to have multiple lentigines throughout the body along with features such as ECG abnormalities, cryptorchidism and sensorineural deafness. These features are found in LEOPARD syndrome which is a Noonan related syndrome, which are characterised by overlapping phenotypes with Noonan syndrome. LEOPARD syndrome is now known as Multiple lentigines syndrome.

Keywords: Lentigines, Noonan syndrome, Hypertrophic cardiomyopathy, LEOPARD syndrome, ECG abnormalities, Hearing loss

Edition: Volume 12 Issue 5, May 2023,

Pages: 1757 - 1758