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首页> 外文期刊>clinical dysmorphology >Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome) ndash; evidence for possible autosomal recessive inheritance
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Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome) ndash; evidence for possible autosomal recessive inheritance

机译:Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome) ndash; evidence for possible autosomal recessive inheritance

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We report a son and a daughter of a first cousin Pakistani marriage who both have osteogenesis imperfecta and the son in addition has arthrogryposis multiplex congenita. Bruck lsqb;(1897)colon; Dtsch Med Wochenschr 23colon; 152mdash; 155rsqb; first reported the case of a boy who had multiple fractures and joint ankylosis, subsequently only one sibship with three affected cases and seven sporadic cases have been reported to our knowledge. On the basis of consanguinity this suggests that the association of osteogensis imperfecta and arthrogryposis multiplex congenita is inherited in this family as an autosomal recessive condition with variable expression.

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