title: Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature.
abstract: Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by coarse facies, diaphragmatic hernia, distal limb hypoplasia and malformations of the cardiovascular, gastrointestinal, genitourinary and central nervous systems. Diaphragmatic hernia is a leading diagnostic feature in Fryns syndrome, recorded in more than 80% of cases. We report a newborn with clinical features of Fryns syndrome except the diaphragmatic hernia. Cases of Fryns syndrome without diaphragmatic hernia are reviewed. Even in the absence of diaphragmatic hernia, pulmonary anomalies are described in Fryns syndrome, especially pulmonary hypoplasia. Fetal mice, exposed to nitrofen, have a high incidence of congenital diaphragmatic hernia and other malformations similar to that seen in Fryns syndrome. Nitrofen might target molecular mechanisms similar to those involved in Fryns syndrome.
authors.affiliation: Service de Réanimation Néonatale et Pédiatrique, Centre Hospitalier Départemental Félix Guyon, Saint-Denis, La Réunion, France. alessandri@chd-fguyon.fr
authors.forename: L
authors.initials: L
authors.lastname: Alessandri
authors.forename: C
authors.initials: C
authors.lastname: Brayer
authors.forename: T
authors.initials: T
authors.lastname: Attali
authors.forename: S
authors.initials: S
authors.lastname: Samperiz
authors.forename: I
authors.initials: I
authors.lastname: Tiran-Rajaofera
authors.forename: D
authors.initials: D
authors.lastname: Ramful
authors.forename: H
authors.initials: H
authors.lastname: Pilorget
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D017809:Fatal Outcome; D005317:Fetal Growth Retardation; D050278:Finger Phalanges / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005808:Genes, Recessive / Q000235:genetics*; D005865:Gestational Age; D006345:Heart Septal Defects, Ventricular / Q000235:genetics; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D013577:Syndrome