Carter, M.T., St Pierre, S.A., Zackai, E.H., Emanuel, B.S. and Boycott, K.M. (2009) Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 Syndrome): Clinical Features of 63 Individuals. American Journal of Medical Genetics Part A, 149A, 1712-1721.
https://doi.org/10.1002/ajmg.a.32957

has been cited by the following article:

• TITLE: Efficacy of Intravenous Immunoglobulin in a Case of Emanuel Syndrome

  AUTHORS: Yasuyo Kashiwagi, Yasuyuki Morishima, Kazushi Agata, Soken Go, Shigeo Nishimata, Hironao Numabe, Hisashi Kawashima

  KEYWORDS: Emanuel Syndrome, IVIG

  JOURNAL NAME: Open Journal of Pediatrics, Vol.7 No.1, March 9, 2017

  ABSTRACT: We report a case of a male patient with Emanuel syndrome (ES) with multiple systemic malformations. He had frequent recurrent seizures and infectious diseases after six months. Because the level of immunoglobulin (IgG) was below the normal range for his age, he was administered intravenous immuno-globulin (IVIG) whenever infection occurred. As he grew up, the frequency of infections and seizures were reduced after IVIG therapy. Although the mechanism was not identified, IVIG might be effective for not only recurrent infections, but also for reducing recurrent seizures.