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Prenatal and postnatal findings in five cases of Fryns syndrome
Author(s) -
Peron Angela,
Bedeschi Maria Francesca,
Fabietti Isabella,
Baffero Giulia Maria,
Fogliani Roberto,
Ciralli Fabrizio,
Mosca Fabio,
Rizzuti Tommaso,
Leva Ernesto,
Lalatta Faustina
Publication year - 2014
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4447
Subject(s) - prenatal diagnosis , medicine , congenital diaphragmatic hernia , diaphragmatic hernia , hypoplasia , genitourinary system , in utero , genetic counseling , diaphragmatic breathing , pediatrics , pulmonary hypoplasia , hernia , pathology , fetus , surgery , pregnancy , anatomy , genetics , biology , alternative medicine
What's already known about this topic? 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.What does this study add? This study demonstrates that prenatal diagnosis of Fryns syndrome is currently not possible in most cases. This finding has implications for prenatal genetic counseling and in utero treatment of diaphragmatic hernia.