SPW and SA are two clinical, metabolic and neurological different syndromes with 1 case for 15000 new born. The molecular mechanisms identified imply large deletions, uniparental disomia (DUP), intragenic and epigenetic modifications in the processes of imprinting and only rare balanced translocations. The actual studies have extended the area of epigenetic modifications, involving chromatin dynamic structure through covalent modifications of their

Aim: To present two cases of supravalvular aortic stenosis, selected from the group of aortic stenosis children, admitted in the IIIrd Paediatric Clinic in 2007, considered to be Williams syndrome. Williams syndrome is caused by the deletion of genetic material from the region q11.2 of chromosome 7, including more than 20 genes, several of these contributing to the characteristic features of this disorder. Material and method: The patients were young

Wolf-Hirschorn syndrome is a rare disease caused by the partial deletion of the fourth chromosome’s short arm. Female to male ratio is 2:1. Because of the vast range of deleted material (1% to 50%) the effect on each child varies widely, but the facial appearance is suggestive of 4p- syndrome. No treatment exists for the underlying disorder and the management is supportive. We present a nine months old female admitted in our clinic for sistolic

Introduction In the absence of a national governmental strategy for Rare Diseases (RD), an EU priority for Romania, the collaboration of local and national NGOs and medical specialists is essential. The aim of our paper is to focus on the encouragement of a collaborative effort between Higher Education Medical Universities, medical specialists, and NGOs serving beneficiaries in the RD sector through a multidisciplinary approach. Results Families

Background. Acute lymphoblastic leukemia (ALL) refers to a group of heterogeneous diseases with different clinical expression and prognosis. Therefore, patients require precise and complete initial evaluation of risk factors including cytogenetics, immunophenotype and biomolecular assessment in order to plan an individualised, optimal treatment regimen. Objectives. We aimed at evaluating the biological profile of leukemic cells and its particularities

Background. Despite the fact that neoplasia is not a deterministic genetic disease, the majority of childhood malignancies result from errors that take place during early stages of cell differentiation, tissue maturation and organ development. Objectives. We aimed at evaluating the frequency of association between neoplasia and some genetic disorders, recognized for their increased susceptibility role and predisposition for neoplasia in order to

Williams syndrome is a rare genetic disorder characterized by mild mental retardation, distinctive facial appearance, abnormalities in calcium balance and blood vessel disease. It is present at birth and affects males and females equally.The syndrome is caused by a deletion in the locus of the elastin gene localized at 7q11.23. We present a 24 months old male admitted in our clinic for fever and vomiting. He is the second child of a healthy couple,

Background: Vascular anomalies are localized errors of vascular development. Vascular tumors include: hemangioma, kaposiform hemangioendothelioma (KH) and tufted angioma. Genetic studies led to the identification of a number of genes that cause vascular malformations. KH is a rare vascular tumor usually presenting at birth or shortly thereafter. The tumor is locally aggressive and produces major complications. Aim: To present a rare case of severe

Genetic causes of mental retardation (MR) are very heterogeneous. Subtelomeric rearrangements play an important role in idiopatic MR determinism. Different methods have been used to identify subtelomeric rearrangements, but recently introduced MLPA (Multiplex Ligation Probe Amplification) technique seems to provide the best results. We have used MLPA to identify subtelomeric rearrangements in children with idiopatic MR. The protocol included the

Introduction. Haemophiliacs often have to adjust their aspirations, lifestyle and employment options. In Romania and in other developing countries, lack of adequate therapy generates fear and uncertainty. Patients with high complications rate may develop psychological disorders. Aim of the study was to evaluate frequency and type of psychological manifestations in haemophiliacs. Material and method. Our study group consisted of 234 haemophiliacs