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Thanatophoric Dwarfism A Case Report

K. A. Callaghan · Australasian Radiology · 1970

SummaryA case of thanatophoric dwarfism (a fatal form of achondroplasia) is presented. The main manifestations of the syndrome are stated, together with a description of the typical radiological features. It is recommended that detailed clinical and pathological investigation of future cases is necessary in order to ascertain aetiology and mode of inheritance. Recognition of the X‐ray changes in utero is possible and may be of benefit to the obstetrician in the event of obstetric difficulties at delivery.

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