Browsing by Author "Kumar, Prabhat"
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Publication Bardet Biedl Syndrome(Nepal Paediatric Society (JNPS), 2013) Ghosh, Taraknath; De, Sangita; Pati, Sananda; Kumar, Prabhat; Chaki, BhusanAbstract: This is a case report of Bardet-Biedl syndrome, diagnosed in a 8 year old girl presented with obesity. She had polydactyly, mild mental retardation, retinitis pigmentosa in both eyes, with hypoplastic uterus, fallopian tube and ovaries. She was born to a consanguinous marriage and had a family member with same features.Publication Sanfilippo Disease(Nepal Paediatric Society (JNPS), 2012) Barik, Kanal Lal; Kumar, Prabhat; Ghosh, Tark Nath; De, Sangita; Basu, SamitAbstract: Sanfilippo disease is a type of Mucopolysaccharidosis, a hereditary progressive disease caused by mutation of gene for degradation of acid mucopolysaccharides. Early detection of this rare disease would enable screening and genetic counseling for asymptomatic family members.