Prenatal diagnosis of Kagami-Ogata Syndrome

Coll, C. Molinet, Bach, J. Sabrià, Renau, M. Izquierdo, Alarcón Allen, A., Monk, David, Gómez del Rincón, O., Recasens, M. Milà and Martínez Crespo, J. M. (2020) Prenatal diagnosis of Kagami-Ogata Syndrome. Journal of Clinical Ultrasound. ISSN 0091-2751

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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.

Item Type: Article
Uncontrolled Keywords: polyhydramnios,protruding philtrum,coat-hanger ribs,bell-shaped thorax,malformations,obstetrics
Faculty \ School: Faculty of Science > School of Biological Sciences
Depositing User: LivePure Connector
Date Deposited: 23 Oct 2020 00:00
Last Modified: 06 Jan 2021 00:57
URI: https://ueaeprints.uea.ac.uk/id/eprint/77409
DOI: 10.1002/jcu.22942

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