Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, <it>MN1 </it>(meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature

• Main Authors: Davidson Tom B (Author), Sanchez-Lara Pedro A (Author), Randolph Linda M (Author), Krieger Mark D (Author), Wu Shi-Qi (Author), Panigrahy Ashok (Author), Shimada Hiroyuki (Author), Erdreich-Epstein Anat (Author)
• Format: Book
• Published: BMC, 2012-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Pierre-Robin sequence (PRS) is defined by micro- and/or retrognathia, glossoptosis and cleft soft palate, either caused by deformational defect or part of a malformation syndrome. Neurofibromatosis type 2 (NF2) is an autosomal domina...