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Torrance type of lethal neonatal short-limbed platyspondylic dwarfism

โœ Scribed by N. Kaibara; K. Yokoyama; H. Nakano


Publisher
Springer
Year
1983
Tongue
English
Weight
957 KB
Volume
10
Category
Article
ISSN
0364-2348

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โœฆ Synopsis


A rare case of lethal neonatal shortlimbed platyspondylic dwarfism is described. Roentgenographic features of this case, distinctly different from those of the classical thanatophoric dysplasia, are indistinguishable from the other three types of short-limbed platyspondylic dwarfism. Histologic features of the cartilage in this case are not very different from those of the Torrance type, but the presence of focal disruption of column formation in this case suggests a wider spectrum for this entity.


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## Short-limb dwarfism is of heterogeneous origin and has various clinical manifestations. This communication describes a previously apparently unreported type of short-limb dwarfism in 3 affected sibs. Characteristics of this syndrome are bilateral absence of fibulae and severe abnormalities of a