Kagami–Ogata syndrome in a fetus presenting with polyhydramnios, malformations, and preterm delivery: a case report

Abstract

BackgroundKagami–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 presentationA 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.ConclusionKagami–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.

Kagami–Ogata syndrome: a case report

“…Abdominal wall defects such as omphalocele, hernia, and divarication of recti are reported in patients with Kagami-Ogata syndrome [1,5]. Our patient had lax and thin abdominal wall with visible peristalsis and rectus divarication.…”

Transient Polyhydramnios during Pregnancy Complicated with Gestational Diabetes Mellitus: Case Report and Systematic Review

“…Neonates confirmed to have genetic disorders had different grades of facial dysmorphism [ 20 , 21 ], with the presence of other anomalies such as: micrognathia, short neck, small dysplastic, low-set ears, and flattened nasal bridge [ 6 ]. Furthermore, genetic syndromes with specific common anomalies were identified: in a study about Costello syndrome, all the neonates presented atrial tachycardia, feeding problems, growth retardation, cardiac structural anomalies, and respiratory distress [ 22 ].…”

Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family

“… Buiting et al (2008) named TS to describe the first patient with UPD(14)mat and another with a DLK1 / GTL2 epimutation. KOS is caused by UPD(14)pat, epimutations, and microdeletions affecting the IG-DMR and/or the MEG3 -DMR of maternal origin ( Huang et al, 2019 ). Both TS and KOS are recognized congenital diseases resulting from an abnormal dosage of imprinted genes.…”