UNLABELLED The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of these syndromes indicated clients diag...

references 1. Butler MG. Prader-Willi syndrome: obesity due to genomic imprinting. Curr Genomics 2011; 12: 204-15. a 37 year old man presented with genetically confirmed Prader-Willi syndrome, a genetic multisystem disorder caused, in this case, by a deletion of the paternal genes in the 15q11-q13 region. The most striking characteristic symptom is relentless pursuit of food with devastating ef...

This work aimed to compare the clinical validity of a newly developed assay for Prader-Willi syndrome diagnosis in Romanian population, as compared to an existing assay. This syndrome is a complex multisystem, genetic and epigenetic disorder, which arises from a defect in imprinted genes regulation and contribution. So far, a molecular cytogenetic method (fluorescence in situ hybridization) has...

A special subphenotype of the fragile X syndrome is reported which is characterised by extreme obesity with a full, round face, small, broad hands/feet, and regional skin hyperpigmentation. It resembles the Prader-Willi syndrome (PWS) and might therefore be named 'Prader-Willi-like'. Unlike the PWS, these PW-like fragile X patients lack the neonatal hypotonia with feeding problems during infanc...

BACKGROUND Sleep related disordered breathing (SDB) in pediatric Prader-Willi Syndrome is gaining increased attention due to the possible association of growth hormone therapy, SDB and sudden death. However data on the patterns of SDB and their management, particularly in infants in this population, is lacking. OBJECTIVE The aim of this study was to 1) describe patterns of SDB in growth hormo...