Torrance type of lethal neonatal short-limbed platyspondylic dwarfism
โ 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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โฆ 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.
๐ SIMILAR VOLUMES
## 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