Prader-Willi syndrome (PWS) is a rare neurogenetic disorder, which occurs in l per 15,000 live-born children. First described in 1956 by doctors Prader, Labhart and Willi, it is the commonest cause of syndromic obesity in childhood. Diabetes mellitus (DM) is a rare complication of children with PWS. A literature search revealed that most PWS children with DM have required insulin as their treat...

BACKGROUND Rare diseases (RD) are those that present a lower prevalence than 5 cases per 10.000 population. The main objective of this review was to study the effect on oral health in rare diseases, while the secondary objective of the study is theme upgrade. MATERIAL AND METHODS Comparative observational case-control studies were analysed and a systematic review was conducted in PubMed. Each...

1. Chromosome disorders Chromosome disorders are disorders due to abnormalities in structure or number of chromosomes. STRUCTURAL CHROMOSOME ABNORMALITIES Sometimes, chromosomes break, leading to 5 types of changes in chromosome structure 1. Deletion 2. Duplication 3. Inversion 4. Translocation 5. Insertion 1. Deletion: loss of portion of one chromosome. When this chromosome is passed on to off...

Duplications of the proximal long arm of chromosome 15 have been seen in the Prader-Willi syndrome (PWS), and in subjects without the Prader-Willi phenotype but with other clinical features including short stature, diabetes, anal and jejunal atresia, and acanthosis nigricans. The non-PWS subjects all had different phenotypes despite the identical findings on cytogenetic analysis. A normal pheno...

■ This study tested the hypothesis that Williams syndrome, a rare genetic neurodevelopmental disorder with an unusual cognitive phenotype, involves spared abilities in the domain of understanding other minds. A group of retarded adults with Williams syndrome was compared to an age-, IQ-, and languagematched group of adults with Prader-Willi syndrome, another genetic disorder without the cogniti...

Until 1985 growth hormone (GH) was obtained from pituitary extracts, and was available in limited amounts only to treat severe growth hormone deficiency (GHD). With the availability of unlimited quantities of GH obtained from recombinant DNA technology, researchers started to explore new modalities to treat GHD children, as well as to treat a number of other non-GHD conditions. Although with so...

Prader Willi (PWS) is the most common and rare genetic cause of obesity. Airway problems associated with obesity hypotonia, increased risk aspiration due to gastrointestinal (GI) motility hyperphagia, obstructive sleep apnea syndrome (OSAS), difficult airway management, postoperative respiratory failure narrow are factors that complicate anesthesia management. It should be noted there many anat...

We report on a 16-year-old boy with a maternally inherited ~ 18.3 Mb Xq13.2-q21.31 duplication delimited by aCGH. As previously described in patients with similar duplications, his clinical features included intellectual disability, developmental delay, speech delay, generalized hypotonia, infantile feeding difficulties, self-injurious behavior, short stature and endocrine problems. As addition...

1. Children with proven growth hormone deficiency (GHD) 2. Children with height less than 3rd percentile for chronologic age with chronic renal insufficiency 3. Patients with AIDS wasting 4. Adults with proven GHD 5. Patients with Turner’s syndrome 6. Children with growth failure due to Prader-Willi syndrome 7. Patients with short stature due to Noonan syndrome 8. Promotion of wound healing in ...