Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies

• Main Authors: Mathieu Marty (Author), Carole Bonnaud (Author), Natalie Jones (Author), Michel Longy (Author), Frédéric Vaysse (Author), Eric Bieth (Author), Isabelle Bailleul-Forestier (Author)
• Format: Book
• Published: Hindawi Limited, 2020-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background. Megalencephaly-capillary malformation (MCAP) is a rare overgrowth syndrome caused by postzygotic activating mutations in the PIK3CA gene. Aim. To illustrate the benefits of gingival biopsy in the genetic diagnosis of overgrowth syndromes. Design. Gingival biopsy was performed on a 13-yea...