Thanatophoric Dwarfism
- 1 August 1977
- journal article
- case report
- Published by SAGE Publications in Clinical Pediatrics
- Vol. 16 (8) , 690-697
- https://doi.org/10.1177/000992287701600803
Abstract
Thanatophoric dwarfism is a severe form of short-limbed dwarfism in which cardiorespiratory failure uniformly results in death in the neonatal period. Its radiographic features include markedly flattened vertebral bodies with a typical U-shaped deformity, a flat squat pelvis, and short, bowed extremities with flaring and irregularity of the metaphyses. These char acteristic features distinguish this entity from the two other most commonly confused congenital short-limbed forms of dwarfism—achondroplasia and achondrogenesis. The distinctions are discussed in the text.Keywords
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