Infant with a flat spot on the back of the head

Radiograph of positional plagiocephaly — AP (left) and lateral (right) radiographs of the skull show the bilateral coronal sutures and lambdoid sutures and sagittal suture to be patent. There is some mild flattening along the posterior aspect of the skull

The diagnosis was positional plagiocephaly.

Infant with a palpable ridge on the top of the head

Radiograph and 3D CT of sagittal craniosynostosis — AP (above left) and lateral (above right) radiographs of the skull show the skull to be lengthened (scaphocephaly / dolichocephaly). The sagittal suture appears sclerotic. Superior (below left) and lateral (below right) 3D CT reconstructions of the skull show the skull to be lengthened and complete fusion of the sagittal suture. The remaining sutures are patent.

The diagnosis was sagittal craniosynostosis.

Infant with a bump on the forehead

3D CT of metopic craniosynostosis — Axial CT without contrast of the brain (left) shows fusion of the metopic suture in the midline and a triangular appearance to the anterior aspect of the skull (trigonocephaly). Anterior 3D CT reconstruction (right) shows a prominent midline ridge in the anterior skull and hypotelorism with quizzical eye deformities present bilaterally.

The diagnosis was metopic suture craniosynostosis.

Infant with a pointy head

3D CT of metopic craniosynostosis — Axial CT without contrast of the brain (left) shows fusion of the metopic suture in the midline and a triangular appearance to the anterior aspect of the skull (trigonocephaly). Anterior 3D CT reconstruction (right) shows a prominent midline ridge in the anterior skull and hypotelorism with quizzical eye deformities present bilaterally.

The diagnosis was metopic suture craniosynostosis.

Infant with flattening of the left posterior head

3D CT of unilateral lambdoid craniosynostosis — Lateral (above) and superior (below left) and posterior (below right) 3D CT reconstructions of the skull show flattening of the left posterior skull and fusion of the left lamboid suture. The bilateral coronal sutures, sagittal suture, and right lambdoid suture are patent.

The diagnosis was left lambdoid suture craniosynostosis.

Newborn with a shortened appearance of the head

Radiograph of bilateral coronal craniosynostosis — AP and lateral radiographs of the skull show bilateral elevation of orbital roofs resulting in bilateral harlequin eye deformities. The coronal sutures appear sclerotic and fused along their middle and inferior aspects. The sagittal suture and bilateral lambdoid sutures are patent.

The diagnosis was bilateral coronal craniosynostosis.

Newborn with an unusual head shape

Radiograph and 3D CT of cloverleaf skull — AP (above left) and lateral (above right) radiographs of the skull and anterior (below left) and lateral (below right) 3D CT reconstructions of the skull show fusion of the bilateral coronal sutures, bilateral lambdoid sutures, metopic suture and anterior and posterior aspects of the sagittal suture. There is compensatory widening of the bilateral squamosal sutures. Hypotelorism is present and there are quizzical eye deformities present bilaterally.

The diagnosis was cloverleaf skull.

Our DDX For This Week Is

View the illustrated DDX of craniosynostosis

Toddler with a lesion on the first toe

Clinical image of soft tissue hemangioma of toe — Clinical image shows a large, raised, red, coarse lesion involving almost the entire first toe.

The diagnosis was soft tissue hemangioma.

Pediatric Imaging Pearl of the Week

View the illustrated DDX of skeletal dysplasias

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.