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  • Title: Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism.
    Author: Macpherson RI, Wood BP.
    Journal: Pediatr Radiol; 1980 Jul; 9(4):217-24. PubMed ID: 6773018.
    Abstract:
    Spondyloepiphyseal dysplasia congenita is a form of primary short dwarfism, that is manifest at birth generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed.
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