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 | √ | √ | √ | √ | √ | √ | √ |