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Thanatophoric Dwarfism: Roentgen Diagnosis in Utero
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine.
1972 (English)In: Australasian Radiology, ISSN 0004-8461, E-ISSN 1440-1673, Vol. 16, no 2, 155-158 p.Article in journal (Refereed) Published
Abstract [en]

Thanatophoric dwarfism is a recently identified fatal form of achondroplasia which can be differentiated from the usual form of the disease. A newborn male infant with this disease, where the diagnosis was made in utero, is described. Roentgenological critera for the diagnosis are extremely flat vertebral bodies, extremely short and bowed tubular bones and a small thorax with short, broad ribs.

The mode of inheritance and the importance of a correct diagnosis are discussed.

Place, publisher, year, edition, pages
1972. Vol. 16, no 2, 155-158 p.
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-180755DOI: 10.1111/j.1440-1673.1972.tb01346.xISI: A1972O105300008OAI: oai:DiVA.org:uu-180755DiVA: diva2:551551
Available from: 2012-09-11 Created: 2012-09-10 Last updated: 2017-12-07Bibliographically approved

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