Session Details

[O9]Pediatric Genetics 3 (English Session)

Thu. Nov 19, 2026 5:00 PM - 6:00 PM JST
Thu. Nov 19, 2026 8:00 AM - 9:00 AM UTC
Room 6 (Meeting Room 3, Exhibition Building, Sendai International Center)
Chair: Toshiki Takenouchi (Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences), Mariko Eguchi (Department of Pediatrics, Ehime University Graduate School of Medicine)
[English Session]

[O9-01]Integration of palliative care into the management of pediatric genetic diseases

Fumihito Nozaki1, Chikao Ohigashi1, Hiromi Murakami2, Takahito Wada2 (1. Department of Pediatric Genetics, Shiga General hospital, 2. Department of Genomic Medicine, Kyoto Graduate School of Medicine)

[O9-02]Era-based changes in cardiac intervention and survival in infants with trisomy 18

Kazuki Hatayama1, Yuka Wada1, Yasuhisa Ikuta1, Kana Fukui1, Yuka Kameda1, Ki-Sung Kim2, Yasutaka Hirata3, Rika Kosaki4, Katsusuke Ozawa5, Seiji Wada5, Kenji Kurosawa4, Tetsuya Isayama1 (1. Division of Neonatology, National Center for Child Health and Development, Tokyo, Japan, 2. Division of Cardiology, National Center for Child Health and Development, Tokyo, Japan, 3. Division of Cardiovascular Surgery, National Center for Child Health and Development, Tokyo, Japan, 4. Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan, 5. Division of Maternal-fetal, Neonatal and Reproductive medicine, National Center for Child Health and Development, Tokyo, Japan)

[O9-03]Diagnostic pathways of Rett syndrome-like cases: A five-year review at a single pediatric center

Munetsugu Hara1, Yoriko Watanabe1, Kaori Fukui1, Ryuta Takase1, Go Kawano2, Yukina Hayashi3, Atsushi Fujita3, Naomichi Matsumoto3, Toshiyuki Yamamoto4 (1. Department of Pediatrics and Child Health, Kurume University, School of Medicine, Kurume. Japan, 2. Department of Paediatrics, St Mary's Hospital, 3. Department of Human Genetics, Yokohama City University Graduate School of Medicine, 4. Institute of Medical Genetics, Tokyo Women's Medical University)

[O9-04]Five children of Macrocephaly Associated with PTEN Hamartoma Tumor Syndrome

Naoya Morisada1,2,3, Yoshitaka Asagai3, Yuya Aoto4, Maki Taniguchi2, Hiroaki Hanafusa3, Kandai Nozu3 (1. Department of Clinical Genetics, Hyogo Prefectural Kobe Children Hospital, 2. Genome Medical Center, Hyogo Prefectural Kobe Children Hospital, 3. Department of Pediatrics, Kobe University Graduate School of Medicine, 4. Department of Pediatrics, Hyogo Prefectural Harima-Himeji General Medical Center)

[O9-05]Acute recurrent pancreatitis in a 3-year-old girl with SPINK1 and compound heterozygous UBR1 variants

Hiroyuki Shimada1, Yasuto Sano2, Futa Uetake1, Shiho Iwase3, Yoshihiko Kawano1, Jyunichiro Machida4, Yoshihito Tokita2 (1. Department of Pediatrics, Toyota Memorial Hospital, Toyota, Aichi, Japan, 2. Department of Disease Model, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi, Japan, 3. Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan, 4. Department of Genome Medicine, Toyota Memorial Hospital, Toyota, Aichi, Japan)

[O9-06]Spectrum of Congenital Malformations and Syndromic Pathology in Neonates: A Retrospective Analysis of 167 Clinical Cases

Assel Arginbekova (Scientific Centre of Obstetrics, Gynaecology and Perinatology, Kazakhstan)