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Year : 2021  |  Volume : 4  |  Issue : 4  |  Page : 202-205

De novo NSD1 mutation leading to Sotos syndrome – First case report from Oman

1 Department of Child Health, Paediatric Endocrinology Unit, Sultan Qaboos University Hospital, Muscat, Oman
2 Department of Pediatrics, Oman Medical Specialties Board, Muscat, Oman
3 Department of Genetics, College of Medicine and Health Sciences and Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman

Correspondence Address:
Dr. Hussain Alsaffar
Department of Child Health, Paediatric Endocrinology Unit, Sultan Qaboos University Hospital, Muscat
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jdep.jdep_30_21

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Multiple factors control the growth of a child, including genetics, nutrition, and socioeconomic factors. Referral of tallboys who are otherwise well is very rare. However, sometimes, extraordinary tall stature for the age can be a cause of great concern to the parents. We report a case of an Omani child with a de novo mutation of NSD1 that led to his overgrowth and diagnosis of Sotos syndrome (SoS). This syndrome is a rare genetic disorder. Only two cases of genetically proven diagnosis were reported from the Middle East and North Africa region. Therefore, we describe a case and highlight the comorbidities associated with this condition, encouraging colleagues from the region to report their cases to understand better the phenotype–genotype and the natural history of this disorder in this part of the world.

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