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Prenatal diagnosis of Kagami‐Ogata syndrome
Author(s) -
Molinet Coll Cristina,
Sabrià Bach Joan,
Izquierdo Renau Montserrat,
Alarcón Allen Ana,
Monk David,
Gómez del Rincón Olga,
Milà Recasens Montserrat,
Martínez Crespo Josep Maria
Publication year - 2021
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.22942
Subject(s) - polyhydramnios , medicine , prenatal diagnosis , thorax (insect anatomy) , respiratory distress , abdomen , pediatrics , anatomy , gestation , surgery , pregnancy , fetus , genetics , biology
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.