Table 3.
Clinical characteristics of individuals from Kindred 7, a family with autosomal dominant CFM and a pathogenic SF3B2 variant (c.A1T:p.M1?).
| Clinical features | I:2 | II:2 | II:4 | II:7 | II:9 | III:1a | III:3 | III:4 | III:5 | III:7 | III:8 | III:9 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gender | Female | Female | Female | Male | Male | Female | Male | Female | Male | Male | Male | Male |
| Age at last exam (years) | 60 | 63 | 40 | 36 | 35 | 15 | 23 | 15 | 6 | 11 | 9 | 7 |
| Facial asymmetry | L, mild mandibular hypoplasia | – | L, mild mandibular hypoplasia | – | R, mild mandibular hypoplasia | L, mild mandibular hypoplasia | R, mild maxillary and mandibular hypoplasia | – | R, mild mandibular hypoplasia | R, mild mandibular hypoplasia | R, moderate maxillary and mandibular hypoplasia | R, mild mandibular hypoplasia |
| Lateral oral cleft | – | – | – | – | R, mild | – | – | – | – | – | R, moderate | – |
| Temporomandibular jointb | – | – | L condylar hypoplasia | – | R condylar hypoplasia | – | R condylar hypoplasia | – | R condylar hypoplasia | R condylar hypoplasia | R condylar hypoplasia | R condylar hypoplasia |
| Ear abnormalities | – | R smaller than L | L abnormal tragus, absent lobule | R smaller than L | – | – | R abnormal tragus, absent lobule, EAC stenosis | – | R abnormal tragus, EAC stenosis | R abnormal tragus | R microtia I | – |
| Skin Tags | – | R preauric | L preauric | Bilateral preauric | R preauric | – | R preauric | R, preauric | R preauric | – | R preauric | Bilateral preauric |
| Hearing | Normal (NT) | Normal (NT) | Normal (NT) | Normal (NT) | Normal (NT) | Normal (NT) | Normal (NT) | Normal (NT) | Normal (NT) | Normal (NT) | Normal (NT) | Normal (NT) |
| Ophthalmological anomalies | – | – | L epibulbar dermoid | – | – | – | R epibulbar dermoid | – | – | – | – | – |
| Neurodevelopment | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal |
| Other birth defectsc | – | – | – | – | – | – | – | – | – | – | – | – |
NT Not Tested, R right, L left, EAC external auditory canal, preauric preauricular.
aThis individual was assessed as not-affected in the initial paper11; reassessment in 2020 revealed left mandibular hypoplasia.
bBy evaluation of panoramic radiographs.
cWeight, height and head circumference were unremarkable (not formally documented). Cardiac, skeletal and kidney anomalies were not assessed with imaging.