title: [Prader-Labhart-Willi syndrome in infants].
abstract: We report an infant with severe hypotonia, feeding problems and failure to thrive in the neonatal period, followed by developmental delay. In addition, pale skin, eyelid and pedal edema, cryptorchidism and micrognathia were present. The tentative diagnosis of Prader-Labhart-Willi syndrome was made and confirmed by specific molecular testing at the age of 5 months. The Prader-Labhart-Willi syndrome is usually diagnosed in older infants when the main clinical features such as obesity, short stature, hypogonadism and developmental delay become obvious, in most of the patients typical clinical features are present already in the neonatal period. In conclusion, in neonates and young infants presenting with hypotonia and feeding problems, the Prader-Labhart-Willi syndrome should be considered.
authors.affiliation: Universitätsklinik und Poliklinik für Kinder- und Jugendmedizin, Martin-Luther-Universität Halle-Wittenberg, Germany.
authors.forename: Heinrike
authors.initials: H
authors.lastname: Schmeling
authors.forename: G
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: U
authors.initials: U
authors.lastname: Schulte-Mattler
authors.forename: S
authors.initials: S
authors.lastname: Burdach
authors.forename: G
authors.initials: G
authors.lastname: Horneff
mesh_terms: D001324:Autoantigens / Q000235:genetics; D002884:Chromosomes, Human, Pair 15; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009460:Neurologic Examination; D016133:Polymerase Chain Reaction; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics; D017411:Ribonucleoproteins, Small Nuclear; D055517:snRNP Core Proteins
chemical_list: D001324:Autoantigens; D017411:Ribonucleoproteins, Small Nuclear; D055517:snRNP Core Proteins