Prenatal diagnosis of Kagami-Ogata Syndrome

C. Molinet Coll, J. Sabrià Bach, M. Izquierdo Renau, A. Alarcón Allen, David Monk, O. Gómez del Rincón, M. Milà Recasens, J. M. Martínez Crespo

Research output: Contribution to journalArticle

Abstract

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.
Original languageEnglish
Pages (from-to)498-501
Number of pages4
JournalJournal of Clinical Ultrasound
Volume49
Issue number5
Early online date12 Nov 2020
DOIs
Publication statusPublished - Jun 2021

Keywords

  • polyhydramnios
  • protruding philtrum
  • coat-hanger ribs
  • bell-shaped thorax
  • malformations
  • obstetrics

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