The Treatment of Cleidocranial Dysostosis (Scheuthauer-Marie-Sainton Syndrome), a Rare Form of Skeletal Dysplasia, Accompanied by Spinal Deformities: A Review of the Literature and Two Case Reports
Table 1
Distinguishing characteristics of cleidocranial dysostosis.
Distinguishing characteristics of cleidocranial dysostosis
Heredity
Autosomal dominant
Responsible gene and chromosome
RUNX2 gene/6p21 chromosome
Stature
Shortness of stature (K > E)
Prevalence
<1 million
Appearance of the face
Protruding frontal and parietal bones, depressed nasal bridge Tooth eruption problems Incomplete fusion of the mandibular symphysis Small face Slightly widened eyes High and narrow palate
Skull
Wormian bones Open fontanelles in children No cranial nerve palsy Wide head
Clavicle
Partially present or totally absent Irritation of the brachial plexus irritation (rare)
Scapula
Small, wings may be noticeable Winging may be painful or symptomatic
Thorax, sternum and shoulders
Narrow thorax and pectus excavatum Low shoulders Sternum anomalies
Hands and feet
Delayed ossification in the carpal and tarsal bones Terminal phalanges are short, pointed, hypoplastic, or absent Presence of epiphyses on both the proximal and distal ends of the 2–5 metatarsals and metacarpals Second metacarpal bone is usually long
The pelvis and hips
Wide pubic symphysis Wide triradiate cartilage and sacroiliac joints Small iliac wings Coxa vara, short femoral neck Hip dysplasia (rare)
The spine and intraspinal structures
Spina bifida occulta (thoracic and lumbar) Scoliosis Lumbar spondylolysis (24%) and spondylolisthesis Hemi vertebrae, posterior wedging Syringomyelia Myelopathy due to atlanto-axial subluxation (rare)
