title: Fryns syndrome without diaphragmatic hernia?
abstract: We report on a child with Fryns syndrome including lung hypoplasia, characteristic facial appearance, cleft palate, cardiac anomaly, distal limb abnormalities, absent nipples, bicornuate uterus and early death. In contrast to most patients with Fryns syndrome, diaphragmatic hernia was absent in our patient. However, the diaphragm was reduced to a fibrous web with reduced muscular component.
authors.affiliation: Department of Medical Genetics, University of Antwerp-U.I.A., Wilrijk, Belgium.
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
authors.forename: G H
authors.initials: GH
authors.lastname: Keersmaekers
authors.forename: K E
authors.initials: KE
authors.lastname: Dom
authors.forename: C
authors.initials: C
authors.lastname: Colpaert
authors.forename: E
authors.initials: E
authors.lastname: Schatteman
authors.forename: I B
authors.initials: IB
authors.lastname: Vergote
authors.forename: J E
authors.initials: JE
authors.lastname: Dumon
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics / Q000473:pathology*; D003964:Diaphragm / Q000473:pathology; D005145:Face / Q000002:abnormalities; D005260:Female; D005804:Genes, Lethal; D005808:Genes, Recessive; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006548:Hernia, Diaphragmatic; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D015995:Prevalence; D013577:Syndrome