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Neurofibromatosis type I is an autosomal dominant neurocutaneous disease which affects about 1 in 3000-4000 individuals. It has a variable expressivity, even in the same family. The evolution may vary from a mild form, accidentally diagnosed, to a life threatening form. We evaluated the patients diagnosed in the Regional Center for Medical Genetics of Oradea, in order to see the clinical evolution and the psychosocial impact of neurofibromatosis type I. The study is a descriptive research, both retrospective and prospective, on 69 patients with minimum age of 14. The purpose of the research was to identify how many patients inherited the disorder from a parent and passed it on to their offsprings and what clinical evolution they had. We also followed the psychosocial impact of neurofibromatosis type I, by searching for the presence of cognitive deficit and learning disabilities, disability degree and invalidity pension, social integration or isolation and employment status. [ABSTRACT FROM AUTHOR]

Hemangiomas are the most frequent tumors in childhood and their incidence has increased lately. This study is a descriptive research, which follows the clinical form of hemangiomas, their evolution and the psychosocial impact of hemangiomas. A total of 326 patients were followed-up for a period of at least 14 years. The majority of hemangiomas were present at birth or appear within the first month; there are predisposing factors like feminine gender, prematurity, low birth weight, twin pregnancy. Most of the hemangiomas regress spontaneously, sometimes leaving residual scars or pigmentary changes. Rarely they present complications or associated malformations, which may require different medical approach. Hemangiomas affect children's self-esteem and relationships less and less every day, due to nowadays possibility of early treatment. Most of the patients had a spontaneously regression, by the age of 10 only about a third of them were still showing local signs and only 88 patients required treatment. [ABSTRACT FROM AUTHOR]

Introduction. Down syndrome is the most common chromosomal disorder, with a worldwide frequency of 1 case in 700 live births. Objectives. Starting from the hypothesis that with the increased life expectancy of the patients with Down syndrome, new phenotypic changes and new dysfunctions are expected to appear, we proposed a longitudinal study to analyze their evolution over a long period of time. Material and method. This is a longitudinal study, based on retrospective research and descriptive evaluation, performed on a group of 81 patients from the case series of the Bihor Regional Center for Medical Genetics from Oradea. Results. We have identified 4 types of evolutionary trends of the clinical signs: stationary, involutive, progressive and with late onset. Conclusions. Knowledge of the natural evolution of the signs and symptoms of the disease is indispensable in the long-term monitoring of patients with Down syndrome. The birth of a child with Down syndrome is a real drama for the family with a strong emotional impact that can be prevented or mitigated by facilitating prenatal diagnosis, psychological counselling, social support and specialized genetic advice. [ABSTRACT FROM AUTHOR]

The co-occurrence in the same individual of two numerical chromosomal abnormalities (double aneuploidy) is a very rare condition, especially for autosomes. Clinical presentations are variable depending on the predominating aneuploidy. The authors present a rare case of a male infant with multiple congenital anomalies: craniofacial dysmorphism, short neck, agenesis of the corpus callosum, ventricular septal defect, bilateral broad hallux, large first interdigital space of the toes, plantar furrows, prominent calcaneus and right kidney agenesis. The karyotype identified 82% of mitosis with trisomy 8 (47,XY,+8) and 18% with trisomy 21 (47,XY,+21). The evolution was fatal because of eating difficulties, severe growth retardation and recurrent respiratory infections. He died at the age of five months. We report this case as a very rare double autosomal mosaicism, with a complete clinical and morphological description, as the first documented case in Romania.