Contributo allo studio della Sindrome di Franceschetti Rilievi clinici e genetici da una osservazione familiare

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Abstract
SUMMARY: The Author sets out his standpoint on the value concerning the « forme fruste » of syndromes of multiple malformations expecially of those which have hereditary nature. He remembers the four types of « mandibulo - facial dysostosis ». The Author describes a family in which the different members were affected by this illness in incomplete form. In the last generation by two parents having the « forma frusta », two children were born, affected by a complete Mandibulo - facial Dysostosis both after having lived two or three months. After a close examination of medical literature referring the familiar forms, man examine all the genetical eventuality concerning the examined family. Man can reach to a conclusion that the appearence of two brothers with a complete forme, precociously dead, is quite surely imputable to « homozygotism » and consequently to double close of « pathological genes ».