Telephone Receiver Femur

Thantophoric dwarfism (thanatophoric dysplasia) was described in 1967 by Pierre Maroteaux and colleagues ¹ (Hopital des Enfants-Malades, Paris). They reported their findings in four cases and discussed the differential diagnostic features especially with regard to achondroplasia. One of the features they emphasized in this new disorder was the extreme shortening of the long bones. They also described the abnormal curvature of the diaphysis and the cupping, or flaring, and irregularity of the metaphysis (Figure 1). Four years later these abnormal features of the femurs were characterized as resembling a telephone receiver (Figure 2) by Joseph A. Bailey II (Johns Hopkins University) in his 1971 review article entided, Forms of Dwarfism Recognizable at Birth. Bailey said, ‘Affected individuals can be diagnosed even in utero on the basis of their characteristic bony deformities. Femurs shaped like ‘telephone receivers’ are an obvious feature.’ ² Simply put by Bailey, ‘that’s the way it appeared to me’ (personal communication). Figure 1 Thanatophoric Dwarfs: The femora are shaped like ‘telephone-receivers’ because of the curved diaphysis.’ Reprinted from Bailey<xref ref-type="bibr" rid="ref88_2"> ² </xref>. Forms of dwarfism recognizable at birth. Clin<italic>. Orthop.,</italic> 1971, 76, 150–159, with permission of J.B. Lippincott Co. https://s3-euw1-ap-pe-df-pch-content-public-p.s3.eu-west-1.amazonaws.com/9781003076568/34c29fd5-5662-4e8f-b58c-badd7fa5d724/content/fig88_1_B.jpg"/>