title: Brachmann-de Lange syndrome: pre- and postnatal findings.
abstract: Brachmann-de Lange syndrome (BDLS) is a well-delineated and relatively common syndrome. However, prenatal diagnosis has never been reported, even if in some cases ultrasonography demonstrated one or more manifestations of the syndrome. We report on 3 cases: in the first 2 cases, prenatal ultrasonography demonstrated some signs of the condition. The third represents, to our knowledge, the first prenatal diagnosis of BDLS. We also present a review of the literature concerning pre- and postnatal findings in this syndrome.
authors.affiliation: Service de Pédiatrie et Génétique Médicale, Hôpital Huriez, Lille, France.
authors.forename: S
authors.initials: S
authors.lastname: Manouvrier
authors.forename: M
authors.initials: M
authors.lastname: Espinasse
authors.forename: P
authors.initials: P
authors.lastname: Vaast
authors.forename: O
authors.initials: O
authors.lastname: Boute
authors.forename: I
authors.initials: I
authors.lastname: Farre
authors.forename: F
authors.initials: F
authors.lastname: Dupont
authors.forename: F
authors.initials: F
authors.lastname: Puech
authors.forename: B
authors.initials: B
authors.lastname: Gosselin
authors.forename: J P
authors.initials: JP
authors.lastname: Farriaux
mesh_terms: D000022:Abortion, Spontaneous; D000328:Adult; D001132:Arm / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D003635:De Lange Syndrome / Q000000981:diagnostic imaging*; D005260:Female; D005313:Fetal Death; D005317:Fetal Growth Retardation / Q000503:physiopathology; D006801:Humans; D008297:Male; D006831:Polyhydramnios / Q000503:physiopathology; D011247:Pregnancy; D011859:Radiography; D016216:Ultrasonography, Prenatal