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Articolul precedent |
Articolul urmator |
666 30 |
Ultima descărcare din IBN: 2024-05-03 20:22 |
Căutarea după subiecte similare conform CZU |
616-056.7+616-007-053.1]:575.1 (1) |
Patologie. Medicină clinică (6994) |
SM ISO690:2012 CRACEA (DRUŞCA), Angela, SPRINCEAN, Mariana, FOCA, Silvia-Gabriela, REVENCO, Ninel. Sindromul angelman: considerații in baza unui caz clinic. In: Buletin de Perinatologie, 2020, nr. 2(87), pp. 124-127. ISSN 1810-5289. |
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Buletin de Perinatologie | ||||||
Numărul 2(87) / 2020 / ISSN 1810-5289 | ||||||
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CZU: 616-056.7+616-007-053.1]:575.1 | ||||||
Pag. 124-127 | ||||||
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Angelman’s Syndrome is a rare complex genetic disorder that affects the nervous system. Material and methods. In the Department of Rheumatology of the Institute of Mother and Child was admitted the patient V. with the following compleins: headache, unmotivated smiles, unproductive verbal contact, she does not understand simple instructions and questions, she is inattentive, she has not the sense of danger, she does not communicate with other children, lowered memory, underdeveloped speech, quiet sleep, extensions in the fi ngers IV-V of both hands are limited, swelling of the joints is absent, arthralgia – it is difficult to appreciate, fast tired, complete punches, low appetite. Results. The child was clinically and paraclinically examined (laboratory and instrumental investigations). Consultation of the geneticist was performed ‒ The child presents mental retardation, physical retardation, behavioral disorders, laughter. Mother gave birth at the age of 34 years. Phenotypic: cranio-facial dysmorphia, small eyes, narrow eyes, thick eyebrows, unmotivated laughter, mental retardation, symmetrical palpebral gaps, full-volume eyeball movements, she does not follow aft er hammering, symmetrical face, retained swallowing, palmar hypertrihosis. Diagnosis ‒ Angelman syndrome. Severe mental retardation. Physical retardation. Behavioral disorders. Raynaud’s syndrome. Conclusions. Due to the fact that Angelman syndrome is a rare neuro-genetic disorder, early detection of these patients will improve the quality of their lives and their families. |
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Cuvinte-cheie child, Angelman syndrom, ребёнок, синдром Ангельмана, copil, sindrom Angelman |
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