title: The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome.
abstract: We describe 2 sibs with the syndrome of diaphragmatic hernia, abnormal face, and distal limb anomalies. Both infants died shortly after birth with severe respiratory distress. Postmortem examination showed gross internal anomalies: Dandy-Walker malformation, ventricular septal defect, and renal cystic dysplasia. This combination of anomalies, also termed the Fryns syndrome, appears to be a distinct MCA syndrome with variable expression and probable autosomal recessive inheritance. Prenatal ultrasonographic diagnosis was successful in both patients.
authors.affiliation: Department of Pathology, Katholieke Universiteit Leuven, Belgium.
authors.forename: P
authors.initials: P
authors.lastname: Moerman
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: K
authors.initials: K
authors.lastname: Vandenberghe
authors.forename: H
authors.initials: H
authors.lastname: Devlieger
authors.forename: J M
authors.initials: JM
authors.lastname: Lauweryns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D005820:Genetic Testing; D006548:Hernia, Diaphragmatic / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male