title: [When should evoke prenatal paternal uniparental disomy 14?].
abstract: The paternal uniparental disomy 14 is a rare malformation syndrome whose postnatal pathognomonic sign is the deformation of the rib as coat hanger. In prenatal, ultrasonographic signs are major recurrent polyhydramnios, a narrow thorax and deformed long bones short and sometimes other anomalies including ends. The authors report one rare case of prenatal paternal uniparental disomy 14 with the deformation of the rib as coat hanger. Prenatally, the narrow deformed thorax can be searched by ultrasound three-dimensional (3D) and/or helical CT and thus represent an aid to prenatal diagnosis.
authors.affiliation: Service de gynécologie obstétrique, CHU de Nantes, quai 38, boulevard Jean-Monnet, 44093 Nantes cedex, France.
authors.forename: F
authors.initials: F
authors.lastname: Boiffard
authors.affiliation: Service de cytogénétique, CHU de Nantes, quai 38, boulevard Jean-Monnet, 44093 Nantes cedex, France.
authors.forename: C
authors.initials: C
authors.lastname: Bénéteau
authors.affiliation: Service de radiologie, hôpital mère-et-enfant, CHU de Nantes, 44093 Nantes cedex, France.
authors.forename: M P
authors.initials: MP
authors.lastname: Quéré
authors.affiliation: Service de gynécologie obstétrique, CHU de Nantes, quai 38, boulevard Jean-Monnet, 44093 Nantes cedex, France.
authors.forename: H J
authors.initials: HJ
authors.lastname: Philippe
authors.affiliation: Service de gynécologie obstétrique, CHU de Nantes, quai 38, boulevard Jean-Monnet, 44093 Nantes cedex, France. Electronic address: claudine.levaillant@chu-nantes.fr.
authors.forename: C
authors.initials: C
authors.lastname: Le Vaillant
mesh_terms: D002883:Chromosomes, Human, Pair 14 / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D006831:Polyhydramnios / Q000235:genetics; D011247:Pregnancy; D012272:Ribs / Q000002:abnormalities; D013909:Thorax / Q000002:abnormalities; D036542:Tomography, Spiral Computed; D016216:Ultrasonography, Prenatal; D024182:Uniparental Disomy / Q000503:physiopathology; D055815:Young Adult; D000096803:Imprinting Disorders
keywords: 3D ultrasound; Disomie uniparentale paternelle 14; Déformation des côtes en cintre; Hydramnios; Paternal uniparental disomy 14; Polyhydramnios; Scanner hélicoïdal; Spiral CT; The deformation of the rib as coat hanger; UPD 14; Échographie 3D