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Molecular Genetic Screening for Children at Risk of Neurofibromatosis 2
Griffith R. Harsh, IV, MD;
Mia MacCollin, MD;
Michael J. McKenna, MD;
Joseph B. Nadol, MD;
Robert Ojemann, MD;
M. Priscilla Short, MD
Boston, Mass
Arch Otolaryngol Head Neck Surg. 1995;121(5):590-591.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings. |
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The diagnosis and treatment of vestibular schwannoma (formerly known as acoustic neuroma) in patients with neurofibromatosis 2 (NF2) has been improved in recent years by advances in several clinical and scientific areas. Advances in imaging techniques have allowed high-resolution preoperative assessment of size, shape, and anatomic relationships of vestibular schwannomas. Advances in surgical techniques have decreased the risks of postoperative complications especially seventh and eighth nerve dysfunction.1 Finally, advances in molecular biological techniques have made possible the presymptomatic diagnosis of affected individuals in approximately two-thirds of affected families.2 The last development raises the issue of whether children with vestibular schwannomas should be identified before they develop symptoms from their tumors.
If no treatment exists for a genetic disease that primarily presents in adulthood, there is little rationale for testing children for that disease. In the case of NF2, however, not only does an effective therapy exist, but also
. . . [Full Text PDF of this Article]
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