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

S Denizot; C Boscher; C Le Vaillant; J C Rozé; C Gras Le Guen

doi:10.1038/sj.jp.7211185

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

J Perinatol. 2004 Nov;24(11):733-4. doi: 10.1038/sj.jp.7211185.

Authors

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

Affiliation

¹ Département de périnatologie, CHU de Nantes, France.

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

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.

Publication types

Case Reports

MeSH terms

Arthrogryposis / complications*
Female
Humans
Infant, Newborn
Muscle Hypotonia / complications*
Prader-Willi Syndrome / complications
Prader-Willi Syndrome / diagnosis*