Literature DB >> 15510104

Distal arthrogryposis and neonatal hypotonia: an unusual presentation of Prader-Willi syndrome (PWS).

S Denizot1, C Boscher, C Le Vaillant, J C Rozé, C Gras Le Guen.   

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.

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Year:  2004        PMID： 15510104     DOI： 10.1038/sj.jp.7211185

Source DB:  PubMed          Journal:  J Perinatol        ISSN： 0743-8346            Impact factor:   2.521


  5 in total

Review 1.  Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2.

Authors:  Klementina Fon Tacer; Patrick Ryan Potts
Journal:  Biochem J       Date:  2017-06-16       Impact factor: 3.857

Review 2.  Benefits and limitations of prenatal screening for Prader-Willi syndrome.

Authors:  Merlin G Butler
Journal:  Prenat Diagn       Date:  2016-10-12       Impact factor: 3.050

3.  Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.

Authors:  Dan Mejlachowicz; Flora Nolent; Jérome Maluenda; Hanitra Ranjatoelina-Randrianaivo; Fabienne Giuliano; Ivo Gut; Damien Sternberg; Annie Laquerrière; Judith Melki
Journal:  Am J Hum Genet       Date:  2015-09-10       Impact factor: 11.025

4.  The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.

Authors:  Michael D Fountain; Emmelien Aten; Megan T Cho; Jane Juusola; Magdalena A Walkiewicz; Joseph W Ray; Fan Xia; Yaping Yang; Brett H Graham; Carlos A Bacino; Lorraine Potocki; Arie van Haeringen; Claudia A L Ruivenkamp; Pedro Mancias; Hope Northrup; Mary K Kukolich; Marjan M Weiss; Conny M A van Ravenswaaij-Arts; Inge B Mathijssen; Sebastien Levesque; Naomi Meeks; Jill A Rosenfeld; Danielle Lemke; Ada Hamosh; Suzanne K Lewis; Simone Race; Laura L Stewart; Beverly Hay; Andrea M Lewis; Rita L Guerreiro; Jose T Bras; Marcia P Martins; Gerarda Derksen-Lubsen; Els Peeters; Connie Stumpel; Sander Stegmann; Levinus A Bok; Gijs W E Santen; Christian P Schaaf
Journal:  Genet Med       Date:  2016-05-19       Impact factor: 8.822

5.  Schaaf-Yang syndrome overview: Report of 78 individuals.

Authors:  John McCarthy; Philip J Lupo; Erin Kovar; Megan Rech; Bret Bostwick; Daryl Scott; Katerina Kraft; Tony Roscioli; Joel Charrow; Samantha A Schrier Vergano; Edward Lose; Robert Smiegel; Yves Lacassie; Christian P Schaaf
Journal:  Am J Med Genet A       Date:  2018-10-10       Impact factor: 2.802
  5 in total

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