Publications by authors named "Manasvi Reddy Maram"
Article Synopsis
- - Griscelli syndrome type 2 (GS2) is a rare genetic disorder caused by a mutation in the RAB27A gene, leading to primary immunodeficiency and lighter skin and hair colors, with only 160 cases documented worldwide.
- - A case study of a seven-month-old boy from a consanguineous family reveals symptoms such as recurrent viral infections and silvery grey hair, leading to a diagnosis confirmed by microscopic hair examination and genome sequencing.
- - The article emphasizes the rarity of GS2, its similarities with malnutrition-related symptoms, the difficulties in diagnosing it, and explores potential treatment options available.
Pediatric growing skull fractures are complications that usually occur due to delays in management. In this report, we present the case of a three-year-old girl who was brought to the outpatient department with a complaint of swelling in her scalp. The patient had a history of swelling after suffering a head injury at the age of six months.
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