1. Ovarian Fibromatosis and Sotos Syndrome with a New Genetic Mutation
- Author
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J.-C. Sabourin, Pierre-Hugues Vivier, V. Drouin-Garraud, M Beurdeley, B. Bachy, and A Liard
- Subjects
medicine.medical_specialty ,Pathology ,Ovariectomy ,Fibroma ,Disease ,medicine.disease_cause ,Polymerase Chain Reaction ,Lesion ,Ovarian tumor ,Internal medicine ,Humans ,Medicine ,Child ,Ultrasonography ,Ovarian Neoplasms ,Mutation ,Sotos Syndrome ,business.industry ,Sotos syndrome ,Benignity ,Fibromatosis ,Intracellular Signaling Peptides and Proteins ,Nuclear Proteins ,Obstetrics and Gynecology ,Exons ,Histone-Lysine N-Methyltransferase ,General Medicine ,medicine.disease ,Magnetic Resonance Imaging ,Endocrinology ,Pediatrics, Perinatology and Child Health ,Histone Methyltransferases ,Female ,medicine.symptom ,business - Abstract
Background Sotos syndrome is one the most common overgrowth conditions, after Beckwith-Wiedemann syndrome. As with other overgrowth syndromes, Sotos syndrome can be associated with an increased risk of tumors. Case We describe a young girl with Sotos syndrome and ovarian fibromatosis with a new mutation not reported before in the literature. Summary and Conclusion Development of ovarian tumor in Sotos syndrome has been poorly documented. Ovarian fibromatosis is a very rare non neoplastic disease. Management is guided by the benignity of the lesion and consists of surgical excision of the fibroma.
- Published
- 2013
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