Newborn with a limb abnormality on prenatal ultrasound

Radiograph of proximal focal femoral deficiency — Radiograph of the lower extremities shows an absent right femur and a deformity of the left femur.

The diagnosis was bilateral proximal focal femoral deficiency.

Preschooler with talipes equinovarus of the left foot

Radiograph of club foot — Radiograph of the feet shows varus angulation of the left forefoot. There is a dysplastic appearing medial cuneiform bone with associated widening at the first tarsal-metatarsal joint.

The diagnosis was club foot.

Infant with a back mass

CT of fibromatosis — Axial (above), coronal (below left) and sagittal (below right) CT with contrast of the abdomen show a round, avidly enhancing soft tissue mass arising from the subcutaneous tissues to the left of midline.

The diagnosis was fibromatosis.

Teenager with bilateral knee swelling who has untreated Lyme disease

Radiograph of lyme arthritis of the knees — AP and lateral radiographs of the right knee (above) and left knee (below) shows large bilateral suprapatellar joint effusions, right greater than left.

The diagnosis was Lyme arthritis.

Preschooler with short stature

Pelvis radiograph of spondyloepiphyseal dysplasia — AP radiograph of the pelvis shows delayed ossification of the femoral heads, with multiple femoral head ossification centers present along with delayed ossification of the pubic bones.

The diagnosis was spondyloepiphyseal dysplasia.

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.

Preschooler with short stature

CT and skull radiographs of pyknodysostosis — AP and lateral radiographs of the skull (above) and axial CT without contrast of the brain (below) shows diffusely sclerotic skull bones with a thickened diploic space and diastatis of the coronal and lambdoid and sagittal sutures.

The diagnosis was pyknodysostosis.

Preschooler with short stature

Lower extremity radiograph of pyknodysostosis — AP radiographs of the lower extremities shows generalized osteosclerosis of the bones without a bone in bone appearance.

The diagnosis was pyknodysostosis.

Toddler with abnormally shaped extremities

Radiograph of osteogenesis imperfecta Type I — AP radiograph of the lower extremities shows diffuse osteopenia of the bones which are also gracile and which have chronic healing fractures present.

The diagnosis was osteogenesis imperfecta Type I mild.

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.

Fetus being radiographed post mortem

CXR of osteogenesis imperfecta Type II — CXR AP (above) shows multiple bilateral acute rib fractures resulting in a very small thorax. 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.

Preschooler with short stature

CT of spine in mucopolysaccharidoses type VI — Sagittal CT without contrast of the cervical spine (left) and thoracolumbar spine (right) shows the vertebral bodies to be hypoplastic and oval in appearance and to be beaked anteriorly. There is a gibbus deformity at the thoracolumbar junction. Overall there is diffuse platyspondyly of the spine.

The diagnosis was mucopolysaccharidoses type VI.

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.

Newborn with short stature

Radiograph of hand in chondroectodermal dysplasia — AP radiograph of the hand shows polydactyly with fusion of the fifth and sixth metacarpals. The middle phalanges are short and broad and the distal phalanges are hypoplastic.

The diagnosis was chondroectodermal dysplasia.

Newborn with short stature

CXR of condroectodermal dysplasia — CXR AP and lateral shows the ribs to be short and the thorax to be narrow.

The diagnosis was chondroectodermal dysplasia.

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 extremities in disastrophic dysplasia — AP radiograph of the lower extremities shows shortened femurs bilaterally with flattened distal epiphyses.

The diagnosis was diastrophic dysplasia.

Toddler with drooping shoulders

Radiograph of cleidocranial dysostosis — AP and lateral radiographs of the skull (above) show multiple wormian bones in the lambdoid sutures. CXR AP (middle) shows complete absence of the clavicles bilaterally. AP radiograph of the pelvis (below) shows delayed ossification of the pubic bones giving the appearance of pseudo-diastasis of the symphysis pubis.

The diagnosis was cleidocranial dysostosis.

Infant with trauma to upper extremity

Radiograph of chondrodysplasia punctata — AP radiograph of the upper extremity shows calcific stippling of cartilage and peri-articular soft tissues in the shoulder and elbow.

The diagnosis was chondrodysplasia punctata.

Newborn with respiratory distress

Radiograph of campomelic dysplasia — CXR AP and lateral (above) shows bilateral hypoplastic scapulae and a narrowed thorax. AP radiograph of the lower extremities (below) shows bowing of the bilateral femurs, tibiae and fibulae.

The diagnosis was campomelic dysplasia.

Preschooler with short stature

Radiograph of trident hand in achondroplasia — AP radiograph of the hand shows diffuse shortening of the phalanges and metacarpals, giving the hand the appearance of a trident. There is also metaphyseal flaring of the distal radius and ulna.

The diagnosis was achondroplasia.

Preschooler with short stature

Radiograph of rhizomelic shortening in achondroplasia — AP radiograph of the upper extremity shows proximal (rhizomelic) shortening of the humerus along with flaring of the distal metaphysis of the radius and ulna.

The diagnosis was achondroplasia.

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.