title: [The Wolf-Hirschhorn Syndrome].
abstract: Wolf-Hirschhorn syndrome (WHS) represents a complex developmental disorder characterized by craniofacial dysmorphism, short stature, hypotonia, psychomotor retardation and seizures caused by a terminal deletion of the short arm of chromosome 4. Depending on the extent of the deletion, variable midline defects, abnormalities of the skeletal or urogenital system as well as the central nervous system are observed. Approximately 1/3 of the infants will die in the first year of life even though survival for more than 30 years has been reported. Due to current high quality standards of ultrasonography, WHS can often be diagnosed prenatally. We present a clinical case and provide an overview of the current literature.
authors.affiliation: Klinik für Frauenheilkunde und Geburtshilfe, Universitätsklinikum Ulm, Ulm.
authors.forename: U
authors.initials: U
authors.lastname: Friebe-Hoffmann
authors.affiliation: Klinik für Frauenheilkunde und Geburtshilfe, Universitätsklinikum Ulm, Ulm.
authors.forename: F
authors.initials: F
authors.lastname: Reister
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Ulm, Ulm.
authors.forename: H
authors.initials: H
authors.lastname: Gaspar
authors.affiliation: Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Ulm, Ulm.
authors.forename: H
authors.initials: H
authors.lastname: Hummler
authors.affiliation: Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Ulm, Ulm.
authors.forename: W
authors.initials: W
authors.lastname: Lindner
authors.affiliation: Klinik für Frauenheilkunde und Geburtshilfe, Universitätsklinikum Ulm, Ulm.
authors.forename: K
authors.initials: K
authors.lastname: Lato
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D016216:Ultrasonography, Prenatal / Q000379:methods*; D054877:Wolf-Hirschhorn Syndrome / Q000000981:diagnostic imaging* / Q000196:embryology* / Q000235:genetics