Sonography of Nager acrofacial dysostosis syndrome in utero.
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Older paternal age has previously been documented as a factor in sporadic fresh mutational cases of several autosomal dominant disorders. In this collaborative study, an older mean paternal age has been documented in sporadic cases of at least five additional dominantly inheritable disorders; the basal cell nevus syndrome, the Waardenburg syndrome, the Crouzon syndrome, the oculo-dental-digital sysdrome, and the Treacher-Collins syndrome. It was also found to be a factor in acrodysostosis and progeria, suggesting a fresh mutant gene etiology for these two conditions in which virtually all cases have been sporadic and the mode of genetic etiology has been unknown.
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The authors have examined through the electromygraphic-kinesiographic system provided, the mandibolar movements and the electric activity of the masseter and temporal muscles of group of 25 subjects, aged 22-25 (15 women and 10 men), with complete natural dentition, whose history and clinical examination of cranio-mandibular disorders were negative. The aim of the study is to analyse the values come out by these instrumental researches and to compare them with the already existing literature, trying to obtain standard data of "normality", to be used as comparative and diagnostic parameters for this age range and, on the other hand, as a further method of evaluation for electromyiografic-kinesiographic and electromyiographic analysis of subjects suffering from algic-dysfunctional pathology of the cranio-mandibular apparatus. The analysed champion of healthy subjects, with symmetrical electromyiographic normal values (temporan muscles 0.5-2.5 microvolts, masseter muscles 0.5-2.0 microvolts), presents physiological mandibular movementes along the three space axes: furthermore the results outlined by the existing literature, according to which the female champion has a lower muscular electric potential and mandibular dinamic paths than the male champion, are confirmed. The authors point out the importance of computerised clinical research, not only to get data, but also to store them and to be able to compare them in long term.
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We report on laryngeal malformations in 5 subjects, 4 females and 1 male, with the autosomal-recessive Richieri-Costa and Pereira form of acrofacial dysostosis. Characteristics of the voice are described.
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