Neonatal presentation of Prader Willi sindrome. Personal records

Minerva Pediatr. 2007 Dec;59(6):817-23.

Abstract

Prader Willi Syndrome (PWS) is characterized by typical appearance, obesity, short stature, hypothalamic hypogonadism, cryptorchidism, hypotonia, behavioural abnormalities and mental retardation. It is considered as a continuous genes syndrome with different genotypes: microdeletion of the region 15q11-q13 with paternal imprinting; maternal uniparental disomy (UPD) of chromosome 15; chromosomal rearrangement. Clinical manifestations evolve with age from newborn (hypotonia, poor sucking, hypoplastic external genitalia) to childhood (delay in psychomotor development, hyperphagia, obesity, acromicria and craniofacial dysmorphisms). We present five newborns who received an early diagnosis, based on clinical presentation. The early treatment and follow-up can in fact improve the natural evolution of the syndrome in order to prevent respiratory tract diseases and obesity, and to improve growth.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 15 / genetics
  • DNA Methylation
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Prader-Willi Syndrome / diagnosis*
  • Prader-Willi Syndrome / genetics