IMPE Abstracts

Purpose: Vissers-Bodmer Syndrome is an autosomal dominant disorder caused by CNOT1 gene mutation. It is characterized by systemic developmental delay, mental retardation, language-motor retardation, behavioral abnormalities, growth abnormalities, hypotonia, and distal skeletal defects such as deformities of the hands and feet, It’s evident from infancy. The phenotype is highly variable, with some people having only mild learning difficulties and others h...

Wiedemann-Steiner Syndrome (WDSTS) is an autosomal dominant disorder with a broad and variable spectrum, characterized by intellectual disability (ID), prenatal and postnatal growth retardation, hypertrichosis, characteristic facial features, behavioral problems, and congenital anomalies involving different systems. A total of three patients were diagnosed with novel pathogenic mutations in the KMT2A gene in our hospital. Our first patient was a 15-month-old girl found by Trio...

We describe a female patient with a contiguous gene deletion and duplication syndrome encompassing 223 genes, only manifesting features of BLM (Bloom Syndrome), AGLB1 (Fuchs' dystrophy) and ACAN (Aggreccan Gene Mutation). Our study was started with the observation and follow-up of a 8-year-old pre-term child with short stature (-2.8SD), a peculiar phenotype, microcephaly, ogival palate, short neck, wide nasal bridge, bushy eyebrows and eyelashes, scoliosis, umbilical hern...

Natural history of Prader-Willi syndrome (PWS) is greatly improved when recombinant growth hormone (rGH) treatment is started early in life, turning out to be effective and safe. However, safety alerts persists in relation to possible ventilatory effects of rGH treatment in the first months. For this reason clinical guidelines recommend close monitoring by specialists in sleep-related disordered breathing and otorhinolaryngologists.Objective:</st...

Background: Children born SGA/IUGR are at increased risk of long term endocrine-metabolic disorders. In addition, treatment with supra-physiological doses of rhGH in those without postnatal catch-up growth is associated with insulin resistance. However, studies evaluating glucose metabolism (GM) under rhGH treatment showed variable results.Objectives: To analyze GM in SGA/IUGR patients with short stature in basal conditions and under rhG...

Introduction: Ring chromosome 17 syndrome has a variable phenotype depending on the number of genes lost, gene regulation, and mosaicism degree.Case Report: Scholar, male, presents typical ring chromosome 17 syndrome characteristics, without Miller-Dicker’s critical region involvement, with short stature, moderate left conductive deafness, left kidney hypoplasia, seizures, abdomen malformations, that was confirmed ...

Purpose: Mosaic variegated aneuploidy syndrome type 2(MVA2) is a rare, autosomal recessive genetic disease characterized by mosaic aneuploidies involving multiple chromosomes and tissues, caused by biallelic pathogenic variants in the CEP57 gene. Patients usually present with intrauterine growth retardation, postnatal growth and developmental disorders, microcephaly, special facial features, congenital heart disease, etc. Only 13 cases of patients carrying the...

Introduction: Acid-labile subunit (ALS) forms ternary complexes with insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) being essential for normal circulating IGF-1 levels. The IGFALS gene encodes the ALS and loss-of-function variants in IGFALS cause ALS deficiency, which has a prevalence < 1/1.000.000. These patients generally present with moderate short stature, extraordinarily low serum levels of IGF-I and IGFBP-3 ...

Objective: To analyze the clinical manifestations and genetic characteristics of X-linked intellectual disability (XLID). Methods: The clinical data of a boy with XLID were retrospectively analyzed. The Clinical and gene mutation characteristics of XLID were summarized by a literature review. The whole exome-sequencing test was used to analyze the gene mutation. The pathogenicity of novel mutations was analyzed and the changes of protein function resulted from...

The Noonan syndrome (NS) is part of the rasopathies. Rasopathies are autosomal dominant and recessive disorders due to mutations in genes encoding components or regulators of the RAS/mitogen-activated protein kinase (MAPK) signal transduction pathway, which is essential for cell cycle differentiation, growth, and senescence This syndrome presents three cardinal characteristics: distinctive facial features, postnatal short stature, and cardiac abnormalities. NS coexists with mi...

Introduction: McCune Albright syndrome is diagnosed by classical clinical manifestations of cafe au lait skin macules, multiple endocrinopathies and fibrous dysplasia of bones. The prevalence of syndrome is estimated at 1 in 100,000 to 1 in 100,000,000. McCune Albright syndrome is caused by a postzygotic mutation of the GNAS gene, which results in great variability in clinical presentation. The most common endocrine manifestation is premature puberty, but hype...

Growth hormone deficiency is an entity that can affect 1/3480 children. Its etiology can be congenital or acquired. Within the congenital forms of isolated growth hormone deficiency, there are those related to the alteration of the gene that encodes it. They constitute a rare subgroup of pathologies whose inheritance pattern can be autosomal recessive, dominant or X linked. The mechanisms of growth alteration vary between those that affect the expression of the GH 1 gene, and ...