Thanatophoric Dysplasia

Figure 2.85. The fingers of the same infant as in Figure 2.83 and 2.84 show the typical long tapering digits (arachnodactyly) which are often noted in spondylotho-racic dysplasia.

Thanatophoric Dysplasia
Figure 2.86. In this figure, note the extremely long tapering toes of the same infant.

2.87

Rib Radiographs

Figure 2.87. Chest radiograph of an infant with spondylothoracic dysplasia showing the grotesque and bizarre deformity of the ribs and spine. There is marked vertebral column shortening and numerous vertebral anomalies consisting of hemivertebrae, absent vertebrae, cleft vertebrae, and open neural arches. The severe deformity of the spinal column leads to posterior crowding and a fanlike appearance of die ribs on the frontal radiograms. The thorax is short on die right side due to a diminished number of ribs. The rib deformities are asymmetric.

Thantatroporic Dysplasia

Figure 2.88. Radiograph of the thorax and abdomen in a less severe example of spondy-lothoracic dysplasia. Note the marked abnormalities in segmentation of the vertebrae. These abnormalities extend the total length of the spine, resulting in marked deformity of the spine (scoliosis, kyphosis).

2.88

Figure 2.88. Radiograph of the thorax and abdomen in a less severe example of spondy-lothoracic dysplasia. Note the marked abnormalities in segmentation of the vertebrae. These abnormalities extend the total length of the spine, resulting in marked deformity of the spine (scoliosis, kyphosis).

Thanatophoric Dysplasia

Figure 2.89. Short-limbed dwarfism in an infant with thanatophoric dysplasia. This form of dwarfism is more common in males. Note the large head and hyper-telorism. The chest is markedly narrowed with a large protruding abdomen. The limbs are short and there are increased skin folds about the extremities. These infants do not survive.

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Responses

  • Amedeo
    What is spine scoliosis?
    7 years ago

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