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RGUHS Nat. J. Pub. Heal. Sci Vol: 14 Issue: 2 eISSN: pISSN
Case Report
Muralidhar L.Kulkarni1* , Akhil M.Kulkarni 2, Sidramayya SS 3, Vivekanand VV 3
1 Professor and HOD, Department of Pediatrics,
2 Assistant Professor, Department of Radiodiagnosis,
3Resident,
Department of Pediatrics, JJM Medical College, Davangere
Year: 2012, Volume: 2, Issue: 2, Page no. 113-115,
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Abstract
Sotos Syndrome is an overgrowth syndrome characterized by three major features namely distinctive facial gestalt, macrocephaly and variable degree of learning difficulties. It is one of the most common overgrowth conditions but, the exact estimated birth incidence is unknown. Mutations and deletions of NSD1, a histone methyl transferase implicated in transcriptional regulation is responsible in most of the cases.
<p>Sotos Syndrome is an overgrowth syndrome characterized by three major features namely distinctive facial gestalt, macrocephaly and variable degree of learning difficulties. It is one of the most common overgrowth conditions but, the exact estimated birth incidence is unknown. Mutations and deletions of NSD1, a histone methyl transferase implicated in transcriptional regulation is responsible in most of the cases.</p>
Keywords
Sotos Syndrome, Cerebral Gigantism, NSD1 gene.
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