| At 11 months: | G=5700g, T=65cm PC=42cm |
| SD: −3.54 for waist | |
| SD: −4.4 for weight | |
| SD: −3.25 for the cranial perimeter (PC) | |
| At 4 years: | G=12.3kg, T=91cm PC=47cm |
| SD: −2.68 for waist | |
| SD: −2.46 for weight | |
| SD: −2.27 for PC | |
| At 16 years: | G=47kg, T=148cm PC=51 |
| SD: −2.94 for waist | |
| SD: −1.54 for weight | |
| SD: −2.75 for PC |
Table 1.
Cephalometric analysis based on the profile teleradiography
| MEASUREMENT | NORMAL VALUE | VALUE | DIFFERENCE | BIAS | |
|---|---|---|---|---|---|
| Cranial Base Evaluation | |||||
| Cranial deflection O | 27.0 | 26.1 | −0.9 | ||
| Ant. Cranial Length mm | 64.0 | 58.2 | −5.8 | ||
| Post. Cranial Length mm | 43.5 | 32.7 | −10.8 | ||
| Face Typology | |||||
| Total Facial Height O | 60.0 | 46.5 | −13.5 | ••• | |
| Facial Taper O | 68.0 | 72.3 | 4.3 | • | |
| Mandible Growth Direction | |||||
| Facial axis O | 90.0 | 94.8 | 4.8 | • | |
| Lower Facial Height O | 46.0 | 41.7 | −4.3 | • | |
| Mandible Shape | |||||
| Mandibular arc O | 27.2 | 48.2 | 21.0 | ••• | |
| FMA O | 21.5 | 20.2 | −1.3 | ||
| Corpus Axis mm | 77.4 | 59.9 | −17.5 | ••• | |
| Posterior Facial Height mm | 64.0 | 60.8 | −3.2 | • | |
| Skeletal Relations | |||||
| Convexity mm | 0.0 | 0.6 | 0.6 | • | |
| A-N-Ba O | 63.0 | 62.1 | −0.9 | ||
| Maxillary Depth O | 90.0 | 88.3 | −1.7 | ||
| Facial Depth O | 91.7 | 87.6 | −4.1 | • | |
| Dental Condition | |||||
| Upper 6 to PTV mm | 21.0 | 19.6 | −1.4 | ||
| Lower 6 to PTV mm | 24.0 | 14.5 | −9.5 | ••• | |
| Interincisal angle O | 126.0 | 148.6 | 22.6 | •• | |
| Upper 1 to Lips Embrasure mm | N/A | 8.3 | N/A | •• | |
| Lower 1 Extrusion mm | 1.2 | −1.6 | −2.8 | •• | |
| Lower 1 to A-Po mm | 1.0 | −2.7 | −3.7 | • | |
| Lower 1 to A-Po angle O | 22.0 | 20.1 | −1.9 | • | |
| Esthetic | |||||
| Li’/E-line mm | −3.8 | 3.8 | 7.6 | • | |
Table 2.
Retrognathia in Cephalometry Heb.Uni. Analysis
| Descriptor | Meas | Type | Mean | Sd | Patient | Graph | Comment |
|---|---|---|---|---|---|---|---|
| Maxilla To Cranium | |||||||
| SNA | Deg | 82.0 | 2.0 | 83.65 | − ( * )+ | ||
| NA TO F.H. | Deg | 90.0 | 6.0 | 93.4 | − ( * )+ | ||
| Mandible To Cranium | |||||||
| FACIAL ANGLE | FH-N-Pog | Deg | 87.8 | 3.6 | 93.56 | − ( * )+ | Mandible forward to Base |
Figure 1.
Distinctive clinical facial features of the proband: age 11 months (a, b), age 4 years (c, d) age 16 years (e, f).
Figure 2.
Clinodactyly of the hands (a) and anomaly of the feet (b)
Figure 3.
High-arched palate (a) and abnormal dermatoglyphics (b)
Figure 4.
X-ray examination of hands at 11 months (a) and 16 years (b)
Figure 5.
Transposition between the left lateral incisor and canine (a) open bite (b) enamel hypoplasia and dental caries (c) at 16 years
Figure 6.
Orthopantomography at 16 years
Figure 7.
Profile Teleradiography (a); Ricketts lateral analysis (b) at 16 years
Figure 8.
FISH analysis. FISH finding in chromosome 4 with green signal corresponding to centromere region and red signal corresponding to 4p.16.3 region. The green arrow showed the deletion of chromosome 4 and the red arrow indicated normal chromosome: a) the FISH sample shows chromosomes 4 without deletion; b) FISH test shows 4p monoallelic deletion