Spondyloepiphyseal dysplasia congenita A cause of lethal neonatal dwarfism
- 1 January 1980
- journal article
- case report
- Published by Springer Nature in Pediatric Radiology
- Vol. 9 (4) , 217-224
- https://doi.org/10.1007/bf01092948
Abstract
Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but 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.Keywords
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