[P29] Gene abnormality

Fri. Jun 1, 2018 5:10 PM - 5:40 PM Poster (Convention Hall A)

Chair:TOMOHIRO KUMADA(Department of Pediatrics, Shiga Medical Center for Children)

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[P-166] A case of ATR—X syndrome with respiratory chain disorders

Kaori Aiba^1,2,3, Hajime Sakuma¹, Mari Sugimoto¹, Norihisa Koyama¹, Kenji Yokochi², Akira Ohtake³ (1.Toyohashi Municipal Hospital, Toyohashi, Japan, 2.Seirei Mikatahara General Hospital, Hamamatsu, Japan, 3.Saitama Medical University, Saitama, Japan)

[P-167] A case with severe psychomotor retardation and diarrhea: Vici syndrome caused by EPG5 mutations?

Hidetsugu Nakatsukasa¹, KYOKO HIRASAWA¹, SHINO SHIMADA¹, AKIKO TAKESHITA¹, HIROKAZU OGUNI¹, TOSHIYUKI YAMAMOTO², SATORU NAGATA¹ (1.Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan, 2.Institute of medical genetics, Tokyo Women's Medical University, Tokyo, Japan)

[P-168] A case of Helsmoortel—van der Aa syndrome with severe weight loss

Takahiro Yamamoto^1,2, KAZUO KUBOTA², NORIO KAWAMOTO², MINAKO KAWAMOTO², TAKESHI KIMURA², TOHRU HARADA³, MITSUKO NAKASHIMA⁴, HIROTOMO SAITSU⁴, TOSHIYUKI FUKAO² (1.Department of Disability Medicine, Graduate School of Medicine, Gifu University, Gifu, Japan, 2.Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan, 3.Department of Surgery, Ogaki Municipal Hospital, Ogaki, Japan, 4.Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan)

[P-169] A case of Coffin—Siris syndrome with dysplasia in the macular area

Takako Fujita¹, Yukiko IHARA¹, Hitomi HAYASHI¹, Atsushi ISHII¹, Hiroshi IDEGUCHI¹, Takahito INOUE¹, Sawa YASUMOTO², Toshiyuki YAMAMOTO³, Shinichi HIROSE¹ (1.Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan, 2.Center of medical education, School of medicine. Fukuoka University, Fukuoka, Japan, 3.Institute of medical genetics, Tokyo Women's Medical University, Tokyo, Japan)

[P-170] CREBBP mutations identified in patient without Rubinstein—Taybi syndrome phenotype

Kaori Fukui¹, Yoriko Watanabe^1,2, Koichiro Yoshiura³, Kotaro Yuge¹, Yushiro Yamashita¹ (1.Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan, 2.Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine Kurume Japan, 3.Department of Human Genetics, Atomic Bomb Disease Statute Nagasaki University Nagasaki Japan)

[P-171] Clinical course of a patient with CAPOS syndrome presenting encephalopathy and recurrent ataxia

Hideshi Kawashima¹, Sawako Yamazaki^1,2, Shinya Tsukano¹, Shinichi Magara³, takao komatsubara³, yu kobayashi³, Moemi Hougami³, Jun Toyama³, atsushi ishi⁴, shinichi hirose⁴ (1.Department of pediatrics, Niigata City General Hospital, Niigata, Japan, 2.Department of pediatrics, Niigata minami Hospital, Niigata, Japan, 3.Department of Child neurology, Nishi-Niigata Chuo National Hospital, Niigata, Japan, 4.Department of pediatrics, Fukuoka University Hospital, Fukuoka, Japan)