Table 2.

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

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	√	√	√	√	√	√	√