Table 2.
In-depth overview of the skeletal and spinal features of the study cohort
| Feature | Participants, n/n evaluated | (%) | Evaluation type |
| Skull abnormalities | 19/43 | (44.2) | |
| Wide anterior fontanel | 13/43 | (30.2) | XR, CT, PE |
| Frontal bossing | 3/43 | (7.0) | XR, MRI, PE |
| Craniosynostosis | 2/16 | (12.5) | XR, CT, MRI |
| Other abnormalities of calvaria morphology | 6/16 | (37.5) | XR, CT, MRI |
| Jaw and tooth abnormalities | 44/51 | (86.3) | |
| Permanent upper incisors macrodontia | 30/35 | (85.7) | XR, PE |
| Deciduous incisors macrodontia | 9/16 | (56.3) | XR, PE |
| Tooth malposition/dental crowding | 21/51 | (41.2) | XR, PE |
| Oligodontia | 7/51 | (13.7) | XR, PE |
| Spine abnormalities | 17/32 | (62.5) | |
| Scoliosis | 9/32 | (40) | XR, MRI |
| Hyperkyphosis | 4/32 | (20) | XR, MRI |
| Hyperlordosis | 3/32 | (10) | XR, MRI |
| Abnormal vertebral morphology | 4/32 | (12.5) | XR, MRI |
| Coccygeal anomalies | 4/32 | (12.5) | XR, MRI |
| Low-lying conus medullaris | 4/7 | (57.1) | MRI |
| Hydromyelia/hydrosyringomyelia/ventriculus terminalis | 4/7 | (57.1) | MRI |
| Rib abnormalities | 18/29 | (62.1) | |
| Cervical rib | 14/29 | (48.3) | XR |
| C7 hypertrophic transverse process | 4/29 | (13.8) | XR |
| Hand abnormalities | 15/27 | (55.6) | |
| Carpal bone aplasia | 1/27 | (3.7) | XR |
| Carpal synostosis | 3/27 | (11.1) | XR |
| Other abnormalities of carpal morphology | 5/27 | (18.5) | XR |
| Abnormalities of metacarpal morphology | 2/27 | (7.4) | |
| Short middle phalanx of the fifth finger | 12/27 | (44.4) | XR |
| Short middle phalanx of the second and fifth finger | 3/27 | (11.1) | XR |
| Cone-shaped epiphyses of the phalanges | 1/27 | (3.7) | XR |
| Altered skeletal maturation | 15/27 | (55.6) | |
| Delayed maturation of the hand bones | 14/27 | (51.9) | XR |
| Advanced maturation of the hand bones | 1/27 | (3.7) | XR |
| Discordant maturation of carpals and phalanges | 6/27 | (22.2) | XR |
| Short upper limbs | 2/6 | (33.3) | XR |
| Short lower limbs | 1/5 | (20.0) | XR |
| Hip abnormalities | 8/14 | (57.1) | |
| Hip asymmetry | 3/14 | (21.4) | XR |
| Hip dysplasia | 3/14 | (21.4) | XR |
| Legg-Calvè-Perthes disease | 1/14 | (7.1) | XR |
| Absent femoral head ossific nucleus | 1/14 | (7.1) | XR |
| Foot abnormalities | 6/7 | (85.7) | |
| Broad and short tubular bones in first ray | 3/7 | (42.9) | XR |
| Short/dysmorphic tubular bones in other rays | 2/7 | (28.6) | XR |
| Cone-shaped epiphyses of the toes | 2/7 | (28.6) | XR |
| Calcaneal alteration | 1/7 | (14.3) | XR |
PE, physical examination; XR, X-ray.