Kagami–Ogata syndrome in a fetus presenting with polyhydramnios, malformations, and preterm delivery: a case report
| Autor: | Yasushi Takai, Mamiko Shinsaka, Nozomi Uemura, Hiroyuki Seki, Haipeng Huang, Yukiko Mikami, Ayaka Iwatani, Kazuhiko Kabe, Fumihito Miyake, Kazunori Baba, Masahiro Saitoh, Kosuke Shigematsu |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male Polyhydramnios medicine.medical_specialty Epigenetic mutation Birth weight Genetic counseling lcsh:Medicine Case Report Chromosome Disorders Genetic Counseling 030204 cardiovascular system & hematology Kagami–Ogata syndrome Craniofacial Abnormalities Genomic Imprinting 03 medical and health sciences 0302 clinical medicine Fetal Stage Amniodrainage Asian People Pregnancy Intellectual Disability Humans Medicine Abnormalities Multiple Chromosomes Human Pair 14 Fetus Omphalocele Cesarean Section business.industry Obstetrics lcsh:R Infant Newborn Infant Fetal diagnosis Syndrome General Medicine medicine.disease 030220 oncology & carcinogenesis Genetic diagnosis Premature Birth Gestation Female business Hernia Umbilical |
| Zdroj: | Journal of Medical Case Reports, Vol 13, Iss 1, Pp 1-5 (2019) Journal of Medical Case Reports |
| ISSN: | 1752-1947 |
| Popis: | Background Kagami–Ogata syndrome is also known as paternal uniparental disomy 14 and related disorders and is caused by abnormal genomic imprinting in the long arm of the chromosome 14q32.2 region. Its clinical manifestations include polyhydramnios in the fetal stage, respiratory insufficiency because of a small thorax, abdominal wall abnormalities, and peculiar facial features after birth. Case presentation A 38-year-old Japanese primigravida woman was referred to our hospital in the 19th week of pregnancy for suspected omphalocele. She had a history of hypothyroidism but was prescribed orally administered levothyroxine (50 μg/day) prior to conception and was euthyroid. Her ultrasound scan prior to visiting our hospital revealed fetal omphalocele, heavy for date, and polyhydramnios. The mother was advised to be admitted for observation from 28 weeks of gestation for threatened premature delivery. She required amniodrainage at 29 and 32 weeks of gestation. At 35 weeks of gestation, the fetal membrane prematurely ruptured and she gave birth after an emergency Cesarean section. The infant was a male child with a birth weight of 3188 g, and was suspected to have Kagami–Ogata syndrome after birth based on thoracic hypoplasia, swallowing function abnormalities, and peculiar facial features. A definitive diagnosis was established by performing genetic testing of the infant after obtaining informed written consent from both the parents; the results of the genetic testing revealed hypermethylated intergenic-differentially methylated region and maternally expressed gene 3-differentially methylated region in the corresponding chromosome 14 region. Both the parents were genetically tested after adequate genetic counseling, which revealed a de novo microdeletion in a differentially methylated region. Conclusion Kagami–Ogata syndrome should have been suspected because of the presence of polyhydramnios and omphalocele during pregnancy. Respiratory insufficiency soon after birth, because of a small thorax, is expected in this disease and a diagnosis during pregnancy may have enabled appropriate care after birth. |
| Databáze: | OpenAIRE |
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