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...

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Detalles Bibliográficos
Autores: Molinet Coll C, Sabrià Bach J, Izquierdo Renau M, Alarcón Allen A, Monk D, Gómez Del Rincón O, Milà Recasens M, Martínez Crespo JM
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Fundació Sant Joan de Déu
Repositorio:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
OAI Identifier:oai:fsjd.fundanetsuite.com:p18469
Acceso en línea:https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18469
Access Level:acceso abierto
Palabra clave:bell&#8208
shaped thorax
coat&#8208
hanger ribs
malformations
obstetrics
polyhydramnios
protruding philtrum
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spelling Prenatal diagnosis of Kagami-Ogata syndromeMolinet Coll CSabrià Bach JIzquierdo Renau MAlarcón Allen AMonk DGómez Del Rincón OMilà Recasens MMartínez Crespo JMbell&#8208shaped thoraxcoat&#8208hanger ribsmalformationsobstetricspolyhydramniosprotruding philtrumKagami-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.WILEY2021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18469JOURNAL OF CLINICAL ULTRASOUNDISSN: 00912751ISSNe: 10970096reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuinstname:Fundació Sant Joan de DéuInglésinfo:eu-repo/semantics/openAccessoai:fsjd.fundanetsuite.com:p184692026-05-27T12:37:41Z
dc.title.none.fl_str_mv Prenatal diagnosis of Kagami-Ogata syndrome
title Prenatal diagnosis of Kagami-Ogata syndrome
spellingShingle Prenatal diagnosis of Kagami-Ogata syndrome
Molinet Coll C
bell&#8208
shaped thorax
coat&#8208
hanger ribs
malformations
obstetrics
polyhydramnios
protruding philtrum
title_short Prenatal diagnosis of Kagami-Ogata syndrome
title_full Prenatal diagnosis of Kagami-Ogata syndrome
title_fullStr Prenatal diagnosis of Kagami-Ogata syndrome
title_full_unstemmed Prenatal diagnosis of Kagami-Ogata syndrome
title_sort Prenatal diagnosis of Kagami-Ogata syndrome
dc.creator.none.fl_str_mv Molinet Coll C
Sabrià Bach J
Izquierdo Renau M
Alarcón Allen A
Monk D
Gómez Del Rincón O
Milà Recasens M
Martínez Crespo JM
author Molinet Coll C
author_facet Molinet Coll C
Sabrià Bach J
Izquierdo Renau M
Alarcón Allen A
Monk D
Gómez Del Rincón O
Milà Recasens M
Martínez Crespo JM
author_role author
author2 Sabrià Bach J
Izquierdo Renau M
Alarcón Allen A
Monk D
Gómez Del Rincón O
Milà Recasens M
Martínez Crespo JM
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv bell&#8208
shaped thorax
coat&#8208
hanger ribs
malformations
obstetrics
polyhydramnios
protruding philtrum
topic bell&#8208
shaped thorax
coat&#8208
hanger ribs
malformations
obstetrics
polyhydramnios
protruding philtrum
description 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.
publishDate 2021
dc.date.none.fl_str_mv 2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18469
url https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18469
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv WILEY
publisher.none.fl_str_mv WILEY
dc.source.none.fl_str_mv JOURNAL OF CLINICAL ULTRASOUND
ISSN: 00912751
ISSNe: 10970096
reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname:Fundació Sant Joan de Déu
instname_str Fundació Sant Joan de Déu
reponame_str r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
collection r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869410656972701696
score 15,812429

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