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  • Title: [Chondrodysplasia punctata congenita: a genetic heterogenous disease].
    Author: Hack WW, Derksen-Samson JF, Grimberg RT, van der Harten JJ.
    Journal: Tijdschr Kindergeneeskd; 1984 Feb; 52(1):16-23. PubMed ID: 6710469.
    Abstract:
    Chondrodysplasia punctata congenita is an entity of genetic heterogeneity characterized by the presence of stippled epiphyseal and extra-epiphyseal calcifications in roentgenograms. There are at least three distinct types which differ in their mode of inheritance: the autosomal recessive, the X-linked dominant and the autosomal dominant type. Recently a mesomelic type has been recognized. Its mode of inheritance is not known. A case of chondrodysplasia punctata congenita is presented with its signs and symptoms. The pregnancy was complicated by a sepsis. The mother used several drugs. The classification of the child which died after two days is difficult; she probably belongs to the mesomelic type. The diagnosis chondrodysplasia punctata congenita is mainly based on radiological examinations.
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