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Case Reports
. 1980 Jul;9(4):217-24.
doi: 10.1007/BF01092948.

Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism

R I Macpherson, B P Wood
Case Reports

Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism

R I Macpherson et al. Pediatr Radiol. 1980 Jul.

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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References

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