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38 results
  • Same Phenotype in Children with Growth Hormone Deficiency and Resistance. [Case Reports]
    Case Rep Pediatr 2018; 2018:5902835Ioimo I, Guarracino C, … Bozzola M
  • By definition, about 2.5% of children show a short stature due to several causes. Two clinical conditions are characterized by serum IGF-I low levels, idiopathic GH deficiency (IGHD), and GH insensitivity (GHI), and the phenotypic appearance of these patients may be very similar. We studied two children with short stature and similar phenotypes. The first case showed frontal bossing, doll face, a…
  • Homozygous microdeletion of the POU1F1, CHMP2B, and VGLL3 genes in chromosome 3--a novel syndrome. [Case Reports]
    Am J Med Genet A 2011; 155A(9):2242-6Gat-Yablonski G, Frumkin-Ben David R, … Lazar L
  • Microdeletion syndromes include numerous syndromic phenotypes associated with intellectual disability and dysmorphic features. We report on a patient with a novel microdeletion of chromosomal region 3p11.2-p12.1 containing POU1F1, chromatin-modifying protein 2B (CHMP2B), and vestigial-like 3 (VGLL3) genes. Our patient was diagnosed as having a neonatal multiple pituitary hormone [growth hormone (…
  • Oral and dental findings in a child with growth hormone insensitivity syndrome. [Case Reports]
    J Dent Child (Chic) 2010 Jan-Apr; 77(1):54-8Abanto J, Celiberti P, … Raggio DP
  • Growth hormone insensitivity syndrome, also known as Laron syndrome, is an autosomal recessive disorder caused by defects the of growth hormone receptor gene and may lead to increased growth hormone levels. This syndrome's main clinical features are: dwarfism; acromicria; organomicria; cervical spinal stenosis; early osteoarthritic changes of the atlantoaxial joint; small oropharynx; decreased gr…
  • A survey on Prader-Willi syndrome in the Italian population: prevalence of historical and clinical signs. [Journal Article]
    J Pediatr Endocrinol Metab 2009; 22(10):883-93Crinò A, Di Giorgio G, … Italian Society of Pediatric Endocrinology and Diabetology
  • Clinical criteria for the diagnosis of Prader-Willi Syndrome (PWS) were established by consensus in 1993 (Holm et al.). Specific molecular testing is now available and the purpose of diagnostic criteria has shifted to identify individuals to test, thus avoiding the expense of unnecessary analysis. The aim of this study was to find clinical indicators to select patients with suspected PWS for labo…
  • Genetic imprinting: the paradigm of Prader-Willi and Angelman syndromes. [Review]
    Endocr Dev 2009; 14:20-8Gurrieri F, Accadia M
  • Imprinted genes are expressed from only one of the two parental alleles. A consequence of genomic imprinting is that viable embryos must receive two haploid genome complements from parents of opposite sex. The parental-specific expression is obtained through epigenetic modifications (DNA methylation, histone tail modifications) which alter the conformation of chromatin fiber and there-fore regula…
  • Neonatal presentation of Prader Willi sindrome. Personal records. [Case Reports]
    Minerva Pediatr 2007; 59(6):817-23Maggio MC, Corsello M, … Liotta A
  • 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 r…
  • Rheumatic diseases and Klinefelter's syndrome. [Review]
    Autoimmun Rev 2006; 6(1):33-6Rovenský J
  • The Klinefelter's syndrome (KS) is not a rare gonosomal aberration occurring in males. The disorder is characterized by microorchidism. Another typical although not constant symptom of this disorder is gynecomastia with almost normal male secondary sex characteristics. The etiology of the disease remains unexplained. Previous studies have shown that this disorder is a genetic chromosomal abnormal…
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