Art

J-GLOBAL ID：201202296756048264   Reference number：12A1523895

A severe form of epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma

脳幹および小脳の奇形と新生児髄芽腫に関連した表皮母斑症候群の重症型

Author (16)： OKUMURA Akihisa (Dep. of Pediatrics, Juntendo Univ. Fac. of Medicine, JPN) ,  LEE Tsubasa (Dep. of Pediatrics, Juntendo Univ. Fac. of Medicine, JPN) ,  IKENO Mitsuru (Dep. of Pediatrics, Juntendo Univ. Fac. of Medicine, JPN) ,  SHIMOJIMA Keiko (Tokyo Women’s Medical Univ. Inst. for Integrated Medical Sciences, JPN) ,  KAJINO Kazunori (Dep. of Pathology, Juntendo Univ. Fac. of Medicine, JPN) ,  INOUE Yuka (Dep. of Pediatrics, Juntendo Univ. Fac. of Medicine, JPN) ,  YOSHIKAWA Naomi (Dep. of Pediatrics, Juntendo Univ. Fac. of Medicine, JPN) ,  SUGANUMA Hiroki (Dep. of Pediatrics, Juntendo Univ. Fac. of Medicine, JPN) ,  SUZUKI Mitsuyoshi (Dep. of Pediatrics, Juntendo Univ. Fac. of Medicine, JPN) ,  HISATA Ken (Dep. of Pediatrics, Juntendo Univ. Fac. of Medicine, JPN) ,  SHOJI Hiromichi (Dep. of Pediatrics, Juntendo Univ. Fac. of Medicine, JPN) ,  TAKANASHI Jun-ichi (Dep. of Pediatrics, Kameda Medical Center, JPN) ,  JAMES BARKOVICH A. (Neuroradiology Section, Dep. of Radiology and Biomedical Imaging, Univ. of California, San Francisco, CA, USA) ,  SHIMIZU Toshiaki (Dep. of Pediatrics, Juntendo Univ. Fac. of Medicine, JPN) ,  YAMAMOTO Toshiyuki (Tokyo Women’s Medical Univ. Inst. for Integrated Medical Sciences, JPN) ,  HAYASHI Masaharu (Dep. of Brain Dev. and Neural Regeneration, Tokyo Metropolitan Inst. of Medical Sci., JPN)
Material： Brain & Development  (Brain & Dev)
Volume： 34  Issue： 10  Page： 881-885  Publication year： Nov. 2012 
JST Material Number： W0814A  ISSN： 0387-7604  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： 小脳奇形 ,...

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JST classification (1)： Nervous system diseases  (GN03000O)

Reference (13)：

• Pavone L, Curatolo P, Rizzo R, Micali G, Incorpora G, Garg BP, et al. Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. Neurology 1991;41:266-71.
• Grebe TA, Rimsza ME, Richter SF, Hansen RC, Hoyme H. Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review. Am J Med Genet 1993;47:24-30.
• Herman TE, Siegel MJ. Hemimegalencephaly and linear nevus sebaceous syndrome. J Perinatol 2001;21:336-8.
• Hennekam RC, Kwa VI, van Amerongen A. Arteriovenous and lymphatic malformations, linear verrucous epidermal nevus and mild overgrowth: another hamartoneoplastic syndrome? Clin Dysmorphol 1999;8:111-5.
• Dodge NN, Dobyns WB. Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome. Am J Med Genet 1995;56:147-50.

Terms in the title (8)： 脳幹 ,  小脳 ,  奇形 ,  新生児 ,  髄芽腫 ,  表皮母斑 ,  症候群 ,  重症