title: Prenatal ultrasonographic findings in Proteus syndrome.
abstract: Proteus syndrome, a disorder which consists of skeletal, hamartomatous and other mesodermal malformations proves to be tremendously variable. Although most of the patients show deformities at birth, the diagnosis is usually made later in life as the phenotype develops over time. We report on the case of a fetus presenting in utero, with a cystic abdominal mass and malposition of the fingers, which was found to have additional features of Proteus syndrome after termination of pregnancy. This case demonstrates that severe cases of Proteus syndrome can be detected prenatally.
authors.affiliation: Department of Medical Genetics, Hôpital d'Enfants de la Timone, Marseille, France.
authors.forename: S
authors.initials: S
authors.lastname: Sigaudy
authors.forename: C
authors.initials: C
authors.lastname: Fredouille
authors.forename: D
authors.initials: D
authors.lastname: Gambarelli
authors.forename: A
authors.initials: A
authors.lastname: Potier
authors.forename: D
authors.initials: D
authors.lastname: Cassin
authors.forename: C
authors.initials: C
authors.lastname: Piquet
authors.forename: N
authors.initials: N
authors.lastname: Philip
mesh_terms: D000008:Abdominal Neoplasms / Q000000981:diagnostic imaging; D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D018191:Lymphangioma, Cystic / Q000000981:diagnostic imaging; D008297:Male; D011247:Pregnancy; D016715:Proteus Syndrome / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal