Preschooler with short stature

Spine radiographs of spondyloepiphyseal dysplasia
AP radiograph of the lumbar spine (left) shows delayed ossification of the femoral heads and delayed ossification of the pubic bones along with progressive narrowing of the distance between the pedicles descending through the lumbar spine (interpediculate narrowing). Lateral radiograph of the lumbar spine (right) shows the vertebral bodies to have anterior wedging and a pear shape leading to some kyphosis.

The diagnosis was spondyloepiphyseal dysplasia.

Fetus being radiographed post mortem

Radiographs of osteogenesis imperfecta Type II
CXR AP (above) shows multiple bilateral chronic healing rib fractures resulting in a very small thorax and multiple healing fractures of the bilateral humeri, radii and ulnae resulting in them all having a bowed appearance. AP radiograph of the lower extremities (below) shows multiple healing fractures of the bilateral femora, tibiae and fibulae resulting in them all having a bowed appearance.

The diagnosis was osteogenesis imperfecta Type II perinatal lethal.

Newborn with abnormally shaped extremities

Radiographs of osteogenesis imperfecta Type III
AP and lateral radiographs of the skull (above) show multiple wormian bones in the coronal and lambdoid sutures. CXR AP (lower left) shows multiple bilateral acute rib fractures. AP radiograph of the lower extremities (lower right) shows multiple bilateral acute and chronic fractures of the bilateral femora and tibiae and fibulae causing bowing deformities of the lower extremities.

The diagnosis was osteogenesis imperfecta Type III progressive deforming.

Newborn with abnormally shaped extremities

Radiographs of osteogenesis imperfecta Type III
Lateral radiograph of the skull (upper left) shows multiple wormian bones in the coronal and lambdoid sutures. CXR AP (upper right) shows multiple bilateral healing rib fractures. AP radiographs of the upper (lower left) and lower (lower right) extremities show multiple bilateral healing fractures of the extremities causing bowing deformities of all of the extremities.

The diagnosis was osteogenesis imperfecta Type III progressive deforming.

Preschooler with short stature

Spine radiograph of Morquio syndrome
AP radiograph of the thoracolumbar spine (left) shows ribs that are widened but then taper at their vertebral insertions (oar-shaped ribs). Lateral radiograph of the thoracolumbar spine (right) shows the vertebral bodies to be hypoplastic and oval in appearance and to be beaked anteriorly, resulting in a gibbus deformity at the thoracolumbar junction. Overall there is diffuse platyspondyly of the spine.

The diagnosis was mucopolysaccharidoses type IV – Morquio syndrome.

Preschooler with short stature

Radiograph of spine in diastrophic dysplasia
AP radiograph of the thoracic and lumbar spine (left) shows thoracic scoliosis convex right as well as progressive narrowing of the distance between the pedicles descending through the lumbar spine (interpediculate narrowing). The lateral radiograph of the thoracic and lumbar spine (right) shows an irregular shape of the anterior aspect of the vertebral bodies at the thoracolumbar junction, resulting in a kyphotic deformity to the spine.

The diagnosis was diastrophic dysplasia.

Preschooler with short stature

Radiograph of interpedicular narrowing and spinal stenosis in achondroplasia
AP radiograph of the lumbar spine (left) shows progressive narrowing of the distance between the pedicles descending through the lumbar spine (interpediculate narrowing). The lateral radiograph of the lumbar spine (right) shows shortened pedicles leading to narrowing of the anterior-posterior diameter of the spinal canal (spinal stenosis) and that the vertebral bodies have some anterior wedging and posterior scalloping.

The diagnosis was achondroplasia.