title: Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus.
abstract: Larsen syndrome shows a broad spectrum of clinical manifestation ranging from a lethal form of the disorder to a mild clinical expression with absence of major diagnostic features. Here we show that even intrafamilial manifestation may vary extremely to the point that Larsen syndrome in a father has been diagnosed only by typical sonographic features in an affected fetus.
authors.affiliation: Free University of Berlin, Klinikum Benjamin Franklin, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Becker
authors.forename: R D
authors.initials: RD
authors.lastname: Wegner
authors.forename: J
authors.initials: J
authors.lastname: Kunze
authors.forename: S
authors.initials: S
authors.lastname: Runkel
authors.forename: M
authors.initials: M
authors.lastname: Vogel
authors.forename: M
authors.initials: M
authors.lastname: Entezami
mesh_terms: D000328:Adult; D019066:Facies; D005220:Fathers; D005260:Female; D005333:Fetus / Q000002:abnormalities; D005865:Gestational Age; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D010641:Phenotype; D011296:Prenatal Diagnosis; D013577:Syndrome; D016216:Ultrasonography, Prenatal