Background Kagami-Ogata syndrome (KOS, OMIM 608149) is a rare genetic imprinting disorder involving microdeletions and epimutations affecting a maternally inherited locus (14q32.2) in chromosome 14. Neonates commonly present abnormal phenotypic features such as facial dysmorphia, abdominal wall defects, and skeletal abnormalities.  Around 80 cases of KOS were reported in literature, and the incidence rate is estimated at less than 1 in 1,000,000 newborns.

Case Presentation We describe the clinical case of a preterm newborn found with polyhydramnios who was delivered by C-section at 32 weeks by a 30-year-old African American female (G4 P3 Ab1 LC2) with a history of severe pre-eclampsia and sickle cell trait. Fetal ultrasound revealed an omphalocele, lung mass, and left-axis deviation of the heart. Chest X-ray indicated features associated with respiratory distress syndrome (RDS) and a bell-shaped chest indicating pulmonary hypoplasia. A chromosome microarray was performed to determine the underlying cause of this newborn presentation.

Discussion Chromosome microarray analysis confirmed homozygosity of chromosome 14, indicating paternal uniparental isodisomy, which supports the diagnosis of KOS. This case demonstrates the classical symptoms including coat hanger deformity, presence of omphalocele, and bell-shaped thorax revealed by imaging. This patient exhibits facial dysmorphism characterized by hirsute forehead, depressed nasal bridge, micrognathia, webbed neck, and small ears. KOS can be mistaken for other diseases like Beckwith-Wiedemann syndrome, trisomy 18, androgenic mosaicism due to phenotypic overlap. That is why when there are symptoms suggestive of BWS like macrosomia, polyhydramnios, and omphalocele are present, with genetic testing not confirming it, KOS should be tested. The management entails supportive measures like mechanical ventilation, tube feeding, and therapy for developmental delay, necessitating a multidisciplinary approach.