Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life

ABSTRACT:

Objective

Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition.

Methods

Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire.

Results

Ninety patients (54 male-36 female) were seen between 1991-2015, most with paternal deletion (n=56) or maternal isodisomy (n=26). Features included cryptorchidism in 94% males, preterm birth (26%), birthweight <2500 g (24%), polyhydramnios (23%), breech presentation (23%) and need for nasogastric feeding (83%). Reduced fetal movements (FM) were reported in 82.5% patients compared with 4% healthy siblings. Of 35 children born since 1999, 23 were diagnosed clinically within 2

SUBMITTER: Cizmecioglu FM 

PROVIDER: S-EPMC6083474 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature