Prenatal and postnatal findings in five cases of Fryns syndrome. (22nd July 2014)

• Record Type: Journal Article
• Authors: Peron, Angela; Bedeschi, Maria Francesca; Fabietti, Isabella; Baffero, Giulia Maria; Fogliani, Roberto; Ciralli, Fabrizio; Mosca, Fabio; Rizzuti, Tommaso; Leva, Ernesto; Lalatta, Faustina
• Is Part Of: Prenatal diagnosis. Volume 34:Number 12(2014:Dec.)
• Page Start: 1227
• Page End: 1230
• Publication Date: 2014-07-22
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4447
• Languages: English
• ISSNs: 0197-3851

Abstract

<abstract abstract-type="short"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <bold>What's already known about this topic?</bold> <list id="pd4447-list-0001" list-type="bullet"> <list-item id="pd4447-li-0001"> <p>Fryns syndrome is characterized by congenital diaphragmatic hernia, facial dysmorphisms, distal digital hypoplasia, and variable cerebral, ocular, cardiovascular, and genitourinary malformations. It is often lethal. No causative gene is known, and the diagnosis is based on clinical findings. Data on prenatal diagnosis are lacking.</p> </list-item> </list> </p> <p> <bold>What does this study add?</bold> <list id="pd4447-list-0002" list-type="bullet"> <list-item id="pd4447-li-0002"> <p>This study demonstrates that prenatal diagnosis of Fryns syndrome is currently not possible in most cases.</p> </list-item> <list-item id="pd4447-li-0003"> <p>This finding has implications for prenatal genetic counseling and <italic>in utero</italic> treatment of diaphragmatic hernia.</p> </list-item> </list> </p> </abstract>