Prenatal diagnosis of Kagami-Ogata syndrome
Por:
Molinet Coll C, Sabria-Bach J, Izquierdo-Renau M, Alarcon A, Monk D, Gómez Del Rincón O, Milà Recasens M and Martínez Crespo JM
Publicada:
1 jun 2021
Ahead of Print:
1 nov 2020
Resumen:
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.
Filiaciones:
Molinet Coll C:
BCNatal, Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Déu), Barcelona, Spain
Sabria-Bach J:
BCNatal, Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Déu), Barcelona, Spain
Izquierdo-Renau M:
BCNatal, Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Déu), Barcelona, Spain
Alarcon A:
BCNatal, Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Déu), Barcelona, Spain
Monk D:
Imprinting and Cancer Group, Bellvitge Institute for Biomedical Research, L'Hospitalet de Llobregat, Barcelona, Spain
Biomedical Research Centre, University of East Anglia, Norwich Research Park, Norwich, UK
Gómez Del Rincón O:
BCNatal, Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Déu), Barcelona, Spain
Milà Recasens M:
Department of Biochemistry and Molecular Genetics, Hospital Clínic of Barcelona and Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
CIBER of Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain
Martínez Crespo JM:
BCNatal, Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Déu), Barcelona, Spain
Green Accepted
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