Prader–Willi Syndrome: A spectrum of anatomical and clinical features

Abstract

Prader-Willi Syndrome (PWS) is estimated to affect 400,000 people worldwide. First described clinically in 1956, PWS is now known to be a result of a genetic mutation, involving Chromosome 15. The phenotypical appearance of individuals with the syndrome follows a similar developmental course. During infancy, universal hypotonia accompanied by feeding problems, hypogonadism, and dolichocephaly are evident. Characteristic facial features such as narrow bifrontal diameter, almond-shaped eyes, and small mouth (with downturned corners and thin upper lip) may also be evident at this stage. In early childhood, the craniofacial features become more obvious and a global developmental delay is observed. Simultaneously, individuals develop hyperphagia that leads to excessive or rapid weight gain, which, if untreated, exists throughout their lifespan and may predispose them to numerous, serious health issues. The standard tool for differential diagnosis of PWS is genetic screening; however, clinicians also need to be aware of the characteristic features of this disorder, including differences between the genetic subtypes. As the clinical manifestations of the syndrome vary between individuals and become evident at different developmental time points, early assessment is hindered. This article focuses on the clinical and anatomical manifestations of the syndrome and highlights the areas of discrepancy and limitations within the existing literature. Clin. Anat. 29:590-605, 2016. © 2016 Wiley Periodicals, Inc.

Hypogonadotrophic hypogonadism, delayed puberty and risk for neurodevelopmental disorders

“…Our earlier study has demonstrated an increased risk for NDDs in Klinefelter syndrome, which has hypogonadism as one of the clinical features . NDDs and hypogonadism also co‐occur in other defined genetic syndromes such as Turner, Prader‐Willi, Bardet‐Biedl and CHARGE syndromes . Additionally, hypospadias, a common congenital malformation, which is sometimes caused by androgen insufficiency, increase the risk of an NDD …”

Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum

“…The worldwide incidence of severe classic CAH is 1 in 15,000 [10] and the incidence of PWS is estimated to be between 1 in 10,000 and 1 in 30,000 [11]. …”

Prader-Willi syndrome: a nest for premature coronary artery disease?

“…In individuals with individuals commonly have obesity3 and may present hypogonadism4 and growth hormone deficiency (GHD) 5 6. Consequently, they appear to be at high risk of vascular disease due to obesity-related cardiovascular risk factors, such as hypertension, diabetes mellitus type 2 or obstructive sleep apnoea syndrome 4 6 7…”