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SM ISO690:2012 NEDEALCOVA, Elena, IAVORSCHI, Elvira. Pfeiffer syndrome in newborn. In: Cercetarea în biomedicină și sănătate: calitate, excelență și performanță, Ed. 1, 20-22 octombrie 2021, Chişinău. Chișinău, Republica Moldova: 2021, p. 375. ISBN 978-9975-82-223-7 (PDF).. |
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Cercetarea în biomedicină și sănătate: calitate, excelență și performanță 2021 | ||||||
Conferința "Cercetarea în biomedicină și sănătate: calitate, excelență și performanță" 1, Chişinău, Moldova, 20-22 octombrie 2021 | ||||||
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Pag. 375-375 | ||||||
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Background. Pfeiffer syndrome is an extremely rare genetic disease, discovered in 1964 by German geneticist Rudolf Pfeiffer. It is transmitted in an autosomal dominantly way, it is found in 1 out of 100,000 newborns. The syndrome causes premature fusion of skull bones during embryogenesis. Objective of the study. Informing doctors about Pfeiffer syndrome in newborns. Material and Methods. The case of a newborn child with turibrachicephalic skull deformation and abnormal facial features is presented. The general clinical examination was completed with paraclinical investigations, imaging tests (ultrasonography, brain CT). Results. The newborn X. was hospitalized in the profile section on the 3rd day. Anamnesis: gestational age - 37 weeks, weighing-2800 g, waist - 48 cm. Objective examination revealed drowsiness, muscular hypotonia in the limbs. Decreased neonatal reflexes. Marbled leather. Skull shape - turibrachyphalic, craniostenosis, hypertelorism, exophthalmos, ptosis, micrognathia. Wide and short toes. Brain CT confirms imaging data suggestive of changes in Pfeiffer syndrome (skull-turibrachicephalic deformation). Treatment is symptomatic, individualized and guided by the type and severity of the clinical presentation. Conclusion. The treatment must be done as early as possible so that children suffering from this syndrome do not experience their low potential. Premature fusion of the skull bones can be surgically corrected up to the age of 3 months in patients with mild problems of this syndrom |
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Cuvinte-cheie Pfeiffer syndrome, craniostenosis, exophthalmos, mandibular hypoplasia, sindromul Pfeiffer, craniostenoză, exoftalm, hipoplazia mandibulei |
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