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[Dyssegmental dysplasia. Apropos of 2 familial cases with fatal development].

作者信息

Bueno M, Argemi J, Maroteaux P

出版信息

Arch Fr Pediatr. 1984 Apr;41(4):269-71.

PMID:6477044
Abstract

The authors report the cases of 2 sisters presenting with dyssegmental dwarfism. There were 2 other girls in the siblings, one of which was most probably also concerned. These cases favor a recessive transmission of the disease which, thereby, should not be confused with Kniest's disease, as suggested by some authors.

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