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Table 2 Comparison of clinical features of CCD children with different RUNX2 gene variant

From: Identification of RUNX2 variants associated with cleidocranial dysplasia

Clinical synopsis Family_A_II1 (c.577C > T) Family_B_II1 (c.574G > A) Family_C_II1 (c.673C > T) Family_D_II1 (c.722_725delTGTT) Family_E_II1 (c.231_232delTG) Family_F_III1 (c.909C > G) Family_G_III1 (c.668G > T)
GROWTH
Height        
  Short stature
HEAD & NECK
Head        
  Delayed fontanelle closure
  Parietal bossing
Anterior fontanelle open in adults        
Face        
  Frontal bossing
  Metopic groove
  Midface hypoplasia
  Micrognathia
Ears        
  Deafness        
Eyes        
  Hypertelorism  
Nose        
  Low nasal bridge
Mouth        
  Cleft palate        
  Narrow, high-arched palate        
Teeth        
  Delayed eruption of deciduous teeth
  Delayed eruption of permanent teeth
  Supernumerary teeth   
  Retention cysts   
  Enamel hypoplasia
RESPIRATORY
Airways        
  Respiratory distress in early infancy        
CHEST
External Features        
  Narrow thorax
  Abnormal facility in opposing the shoulders
Ribs Sternum Clavicles & Scapulae
  Small scapula
  Hypoplastic clavicles
  Aplastic clavicles        
  Short ribs        
  Cervical ribs        
SKELETAL
  Osteosclerosis        
  Increased bone fragility
Skull        
  Wormian bones
  Bossing of frontal bone
  Bossing of occipital bone        
  Bossing of parietal bone
  Calvarial thickening        
  Absent frontal sinuses        
  Absent paranasal sinuses        
  Hypoplastic frontal sinuses        
  Hypoplastic paranasal sinuses        
  Large foramen magnum        
Spine        
  Spondylolysis        
  Spondylolisthesis        
  Scoliosis
  Kyphosis        
Pelvis        
  Wide pubic symphysis        
  Delayed mineralization of pubic bone
  Broad femoral head with short femoral neck
  Coxa vara        
  Hypoplastic iliac wing
Hands        
  Brachydactyly        
  Long second metacarpal   
  Short middle phalanges of second and fifth fingers        
  Cone-shaped phalangeal epiphyses        
NEUROLOGIC
Peripheral Nervous System        
  Syringomyelia