Imaging Findings
Skull
Wormian bones
Intersutural bones, especially seen in the lambdoid and posterior sagittal sutures
Large head
Thinness and underossification of calvarium in early infancy
Widened fontanelles and sutures with delayed closure
Persistent metopic suture
Midline suture in frontal bone
Brachycephaly and prominent bossing
Large mandible
Nonunion of mandibular symphysis
High narrow palate; may be cleft
Hypoplastic paranasal sinuses, including mastoids
Delayed or defective dentition
Abnormally retained primary teeth
In adulthood, petrous bones may be sclerotic
Chest
Hypoplasia or absence of clavicles
Clavicle normally forms from three ossification centers: sternal, middle and distal
One or more segments in any combination may be absent
Usually of lateral portion
R > L
Clavicles completely absent in 10%
Thorax may be narrowed and/or bell-shaped
Small scapulae
Supernumerary ribs
Incompletely ossified sternum
Spine
Hemivertebrae, spondylosis (frequent)
Exaggerated kyphosis or lordosis
“Bone-within-a-bone”
Pelvis
Delayed ossification of bones forming symphysis pubis
Produces widened symphysis
Hypoplastic iliac bones
Poorly formed sacrum
Extremities
Accessory epiphyses in hands and feet are common
Coxa vara from deformed or absent femoral necks is common
Broad femoral head and short femoral neck
Radius short or, rarely, absent
Elongated second metacarpals
Pseudoepiphyses of metacarpal bases
Short hypoplastic distal phalanges of hand
Pointed terminal tufts
Coned epiphyses
Differential Diagnosis
Widening of symphysis can be seen with bladder exstrophy
Calvarial and clavicular changes in pyknodysostosis can be identical to cleidocranial dysostosis but bones are sclerotic in pyknodysostosis
Short or absent radius may be seen with Holt-Oram Syndrome or TAR syndrome
Absence or erosion of the distal clavicle can be seen with rheumatoid arthritis, hyperparathyroidism, scleroderma
Bone-with-a-bone can be seen with osteopetrosis, Paget disease and with Thorotrast administration
Wormian bones can bee seen with hypothyroidism, Down Syndrome, cretinism, pyknodysostosis, and osteogenesis imperfecta, but are most often a normal variant
Skull
Wormian bones
Intersutural bones, especially seen in the lambdoid and posterior sagittal sutures
Large head
Thinness and underossification of calvarium in early infancy
Widened fontanelles and sutures with delayed closure
Persistent metopic suture
Midline suture in frontal bone
Brachycephaly and prominent bossing
Large mandible
Nonunion of mandibular symphysis
High narrow palate; may be cleft
Hypoplastic paranasal sinuses, including mastoids
Delayed or defective dentition
Abnormally retained primary teeth
In adulthood, petrous bones may be sclerotic
Chest
Hypoplasia or absence of clavicles
Clavicle normally forms from three ossification centers: sternal, middle and distal
One or more segments in any combination may be absent
Usually of lateral portion
R > L
Clavicles completely absent in 10%
Thorax may be narrowed and/or bell-shaped
Small scapulae
Supernumerary ribs
Incompletely ossified sternum
Spine
Hemivertebrae, spondylosis (frequent)
Exaggerated kyphosis or lordosis
“Bone-within-a-bone”
Pelvis
Delayed ossification of bones forming symphysis pubis
Produces widened symphysis
Hypoplastic iliac bones
Poorly formed sacrum
Extremities
Accessory epiphyses in hands and feet are common
Coxa vara from deformed or absent femoral necks is common
Broad femoral head and short femoral neck
Radius short or, rarely, absent
Elongated second metacarpals
Pseudoepiphyses of metacarpal bases
Short hypoplastic distal phalanges of hand
Pointed terminal tufts
Coned epiphyses
Differential Diagnosis
Widening of symphysis can be seen with bladder exstrophy
Calvarial and clavicular changes in pyknodysostosis can be identical to cleidocranial dysostosis but bones are sclerotic in pyknodysostosis
Short or absent radius may be seen with Holt-Oram Syndrome or TAR syndrome
Absence or erosion of the distal clavicle can be seen with rheumatoid arthritis, hyperparathyroidism, scleroderma
Bone-with-a-bone can be seen with osteopetrosis, Paget disease and with Thorotrast administration
Wormian bones can bee seen with hypothyroidism, Down Syndrome, cretinism, pyknodysostosis, and osteogenesis imperfecta, but are most often a normal variant
References:
Dahnert 4th editionGreenfield, George 1969 JB Lippincott Radiology of Bone DiseasesSwischuk, Leonard Imaging of the Newborn, Infant and Young Child 1989 Williams&Wilkins
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