title: Distal arthrogryposis and neonatal hypotonia: an unusual presentation of Prader-Willi syndrome (PWS).
abstract: The clinical features of Prader-Willi Syndrome (PWS) in the neonate are marked by hypotonia, absence of crying, and feeding difficulties, but the clinical nature of PWS in utero remains unclear. We report a case of PWS with fetal immobility and distal arthrogryposis in a girl admitted the first day of life to the neonatal intensive care unit for severe hypotonia and respiratory distress.
authors.affiliation: Département de périnatologie, CHU de Nantes, France.
authors.forename: S
authors.initials: S
authors.lastname: Denizot
authors.forename: C
authors.initials: C
authors.lastname: Boscher
authors.forename: C
authors.initials: C
authors.lastname: Le Vaillant
authors.forename: J C
authors.initials: JC
authors.lastname: Rozé
authors.forename: C
authors.initials: C
authors.lastname: Gras Le Guen
mesh_terms: D001176:Arthrogryposis / Q000150:complications*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009123:Muscle Hypotonia / Q000150:complications*; D011218:Prader-Willi Syndrome / Q000150:complications / Q000175:diagnosis*