Prenatal diagnosis of Kagami-Ogata syndrome
Kagami-Ogata syndrome (KOS14) is a rare congenital disorder associated with defective genomic imprinting of the chromosome 14q32 domain. Typical features include polyhydramnios, small and bell-shaped thorax, coat-hanger ribs, dysmorphic facial features, abdominal wall defects, placentomegaly, severe...
| Authors: | , , , , , , , |
|---|---|
| Format: | article |
| Status: | Published version |
| Publication Date: | 2021 |
| Country: | España |
| Institution: | Fundació Sant Joan de Déu |
| Repository: | r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu |
| OAI Identifier: | oai:fsjd.fundanetsuite.com:p18469 |
| Online Access: | https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18469 |
| Access Level: | Open access |
| Keyword: | bell‐ shaped thorax coat‐ hanger ribs malformations obstetrics polyhydramnios protruding philtrum |
| Summary: | Kagami-Ogata syndrome (KOS14) is a rare congenital disorder associated with defective genomic imprinting of the chromosome 14q32 domain. Typical features include polyhydramnios, small and bell-shaped thorax, coat-hanger ribs, dysmorphic facial features, abdominal wall defects, placentomegaly, severe postnatal respiratory distress and intellectual disability. To the best of our knowledge, this may be the first case where ultrasound findings such as: severe polyhydramnios, a small bell-shaped thorax, a protuberant abdomen and characteristic dysmorphic face prompted directed family interrogation finally leading to the prenatal diagnosis of KOS14. |
|---|