Research in Medicine

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Bahvad A, Aala Nour M. Report of Four Cases of Osteogenesis. Research in Medicine 1982; 7 (3) :102-122
URL: http://pejouhesh.sbmu.ac.ir/article-1-2797-en.html

Four cases of osteogenesis imperfecta along with clinical and laboratory studies were reported. 
Autosomal dominant pattern of transmission was most pro - bable in the first case owing to the fact that all members of the family showed blue sebera,two third was affected with various fractures and one forth suffered with deafness. 
Recessive abnormal trait probably due to new mutation was the case for our second patient since no pertinent phenoty­picity was disclosed in the parents;although it could also be caused by autosomal dominant transmission with low expre­ssity in parents giving rise to congenital form of the disease. 
Our thir􀁆 case without any evidence of disease in the parents was co􀁈sidered as a recessive genetic transmission, although it might be envisaged as a dominant genetic trans­mission with early appearing sympthomatology. 
O.I.in our fourth case with normal appearing parents was consistent with recessive way of transmission.
Mental retardation without any proved acquired etiology in the first case in association with O.I.was of interest, requiring further investigations.