A new category of lethal short-limbed dwarfism
โ Scribed by Knowles, Simon ;Winter, Robin ;Rimoin, David ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1986
- Tongue
- English
- Weight
- 469 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0148-7299
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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 feat
## 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