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  • Title: [Prenatal diagnosis of a case of Fryns' syndrome].
    Author: Barthe B, Cohen H, Saada P.
    Journal: J Gynecol Obstet Biol Reprod (Paris); 1995; 24(1):57-62. PubMed ID: 7730569.
    Abstract:
    Fryns' syndrome was reported for the first time in 1979 in children who died neonatally of prematurity and respiratory distress. This lethal, autosomal recessive syndrome is characterized by a diaphragmatic defect, pulmonary hypoplasia, a "coarse" face and distal limb abnormalities. This report presents a prenatal ultrasonographic diagnosis at 20 weeks' gestation of a case of Fryns' syndrome and defines the frequency of each of its abnormalities from the 38 cases listed in the literature.
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