Kagami-Ogata syndrome (KOS14) is a rare disease characterized by omphalocele, polyhydramnios and a bell-shaped thorax. Although the coat-hanger appearance of the ribs on postnatal X-rays is a key diagnostic finding of KOS14, its prenatal diagnosis remains challenging. We encountered a case of KOS14 diagnosed prenatally that showed omphalocele, polyhydramnios, and a bell-shaped narrow thorax. The coat-hanger angle (CHA) measured at the sixth thoracic vertebrae and the ribs using three-dimensional (3D) ultrasonography was 39°, reflecting the coat-hanger appearance of the ribs. Segmental uniparental disomy chromosome 14 (UPD(14)pat) was confirmed by a methylation analysis and microsatellite analysis after birth. The median CHA (minimum, maximum) in 25 normal fetuses was 19 (9, 26) degrees, and a sonographic CHA of 30° may be a border value for diagnosing KOS14. When the combination of omphalocele and polyhydramnios is found prenatally, 3D ultrasonography for CHA might aid in the differential diagnosis of KOS14.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10087373PMC
http://dx.doi.org/10.1111/jog.15425DOI Listing

Publication Analysis

Top Keywords

omphalocele polyhydramnios
12
prenatal diagnosis
8
kagami-ogata syndrome
8
polyhydramnios bell-shaped
8
thorax coat-hanger
8
coat-hanger appearance
8
appearance ribs
8
kos14
5
quantitative assessment
4
coat-hanger
4

Similar Publications

Hereditary multiple intestinal atresia (HMIA) with mutation is caused by homozygous or compound heterozygous gene mutation. It is characterized by multiple small and large intestinal atresias and/or stenoses. mutation is described in some patients with inflammatory bowel disease and mild-severe forms of severe combined immunodeficiency without intestinal atresia or stenosis.

View Article and Find Full Text PDF

Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.

BMC Med Genomics

August 2024

Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric & Gynecologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.

Article Synopsis
  • Kagami-Ogata syndrome (KOS) and Temple syndrome (TS) are rare genetic disorders linked to imprinted genes on chromosome 14q32, affecting maternal and paternal gene expression, respectively.
  • A unique case involved a mother with TS who had two pregnancies with KOS, showing symptoms like prenatal overgrowth and omphalocele, confirmed by genetic testing revealing a deletion in the imprinted region.
  • Proper prenatal diagnosis of KOS relies on better recognition of its symptoms by healthcare providers and the significance of studying imprinted gene regions in genetic lab tests.
View Article and Find Full Text PDF

Kagami-Ogata syndrome (KOS14) is a rare disease characterized by omphalocele, polyhydramnios and a bell-shaped thorax. Although the coat-hanger appearance of the ribs on postnatal X-rays is a key diagnostic finding of KOS14, its prenatal diagnosis remains challenging. We encountered a case of KOS14 diagnosed prenatally that showed omphalocele, polyhydramnios, and a bell-shaped narrow thorax.

View Article and Find Full Text PDF

Background: Beckwith-Wiedemann syndrome (BWS) is a phenotypically and genetically heterogeneous disorder associated with epigenetic/genetic aberrations on chromosome 11p15.4p15.5.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!