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Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2.

ABSTRACT: Fraser syndrome (FS) involves multiple malformations and has a 25% recurrence risk among siblings. However, these malformations are difficult to detect prenatally, hampering prenatal diagnosis. Here, we describe a fetus with FS diagnosed using ultrasonography. Ultrasonography revealed congenital high airway obstruction syndrome and renal agenesis. Syndactyly of both hands and cryptophthalmos were noted postnatally, and the diagnosis was confirmed by genetic analysis, which showed novel compound heterozygous variants of FREM2.

SUBMITTER: Ikeda S

PROVIDER: S-EPMC7532185 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2.

Ikeda Shoko S Akamatsu Chika C Ijuin Akifumi A Nagashima Ami A Sasaki Megumi M Mochizuki Akihiko A Nagase Hiromi H Enomoto Yumi Y Kuroda Yukiko Y Kurosawa Kenji K Ishikawa Hiroshi H

Human genome variation 20201002

Fraser syndrome (FS) involves multiple malformations and has a 25% recurrence risk among siblings. However, these malformations are difficult to detect prenatally, hampering prenatal diagnosis. Here, we describe a fetus with FS diagnosed using ultrasonography. Ultrasonography revealed congenital high airway obstruction syndrome and renal agenesis. Syndactyly of both hands and cryptophthalmos were noted postnatally, and the diagnosis was confirmed by genetic analysis, which showed novel compound ...[more]

PMID: 33082983

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