Physical Characteristics of Spondylo-epiphyseal Dysplasia

Face and Skull:

• Characteristic facial expression of sadness
• Long face, narrow at the level of the eyes
• Mild frontal bossing
• Protruding, wide-set eyes
• Down-turned eyebrows
• Small mouth with cleft palate
• Head appears to rest on chest

Trunk and Spine:

• Short neck
• Barrel chest with pectus carinatum
• Deep Harrison’s grooves
• Disproportionately small pelvis, set back behind the frontal plane of the shoulders. Patients tend to walk with their head hyperextended and behind their shoulders.
• Short spine
• Marked lumbar lordosis
• Moderate kyphoscoliosis often times occur is late childhood or early adulthood.
• Platyspondyly

Arms and legs:

• Rhizomelic shortening or arms and legs
• Compared to the trunk, limbs appear long
• Hypotonia
• Ligamentous laxity
• Odontoid hypoplasia
• Constantly flexed and abducted hips
• Genu varus, due to internal tibial torsion
• Flexed knees during a typical gait

What are the x-ray characteristics?

The major radiographic features of infancy include a delayed ossification of the skeleton and an absence of ossification centers of pubic bones and knee epiphyses. Ossification of the vertebral bodies of upper cervical spine is absent, and the vertebral bodies of the thoracic and lumbar regions are small and dorsally wedged. The ossification of the sacrum is delayed. The major radiographic features of childhood include flattened and immature vertebral bodies with anterior ossification defects. Hypoplasia of odontoid process of C-2 is characteristic. Ossification of the pelvis is delayed. Femoral head and neck may be absent or incompletely ossified. Coxa vara is common. Epiphyseal and metaphyseal abnormalities of long tubular bones are typicaly. There is also a delayed appearance of carpal and tarsalossification centers. The major radiographic features of adulthood include a short spine with moderate kyphoscoliosis and marked lumbar lordosis. Vertebral bodies are flat and irregular. The odontoid process is hypoplastic, with lack of fusion with C-2 body. Femoral trochanters are high-riding. Femoral heads are deformed. Coxa vara is common. The long tubular bones are abnormally short, with flat and deformed epiphyses.