Table 3. Summary of phenotypic and molecular characteristics of patients with De Hauwere syndrome and similar phenotypes.
| De Hauwere et al21a | Gould et al32 (patient 3) | Mirza et al34 (patient 3) | Maclean et al35 | Kannu et al36 | Martinez-Glez et al37 | Bedoyan et al38 | This study (patient 28) Lowry et al22 | |
|---|---|---|---|---|---|---|---|---|
| Estimated deletion size | NT | ∼12 Mb (6p24-pter) | 6.57 Mb (6p25.1-pter) | up to 7 Mb (6p25.1-pter) | 2.2-2.4 Mb (6p25.2/3-pter) | 2.7 Mb (6p25.2-pter) | 2.21 Mb (6p25.3); 240 kb terminal | 1.3 Mb (6p25.3) |
| Type of deletion | NT | Terminal | Terminal | Terminal | Terminal | Terminal | Complex (terminal) | Interstitial |
| Genes included | ND | Multiple (includes FOXQ1, FOXF2, FOXC1, GMDS) | Multiple (includes FOXQ1,FOXF2, FOXC1, GMDS) | Multiple (includes FOXQ1, FOXF2, FOXC1, GMDS) | Multiple (includes FOXQ1, FOXF2, FOXC1, GMDS) | Multiple (includes FOXQ1, FOXF2, FOXC1, GMDS) | Multiple (includes FOXQ1, FOXF2, FOXC1, GMDS) | Only FOXQ1, FOXF2, FOXC1, GMDS (partial) |
| Anterior eye defect | 3/3 | + | + | + | + | + | − | + |
| Hypertelorism | 3/3 | + | + | + | + | + | + | + |
| Developmental delay | 3/3 (1 mild) | NR | + | + | Mild | + | + | − |
| Hypotonia | 2/2 | − | − | + | − | NR | − | − |
| Hearing loss | 2/2 | + | + | − | + | + | + | + |
| Heart defect | NR | + | NR | + | Heart palpitation | NR | + | − |
| Hydrocephalus/enlarged ventricles | 2/2 | + | NR | + | − | + | − | + |
| Head circumference | 10th centile | NR | >95th centile | 50th centile | 50–75th centile | >97th centile | 25–50th centile | 50–75th centile |
| Femoral head/epiphyseal anomalies | 2/2 | + | + | − | + | + | + | + |
| Joint dislocations/hyperlaxity | 3/3 | − | − | − | − | NR | + | + |
| Short stature | 1/2 | NR | NR | − | − | − | − | + |
| Other skeletal defects | Delayed bone age, large sella turcica | Club feet, scoliosis, delayed bone age, humeral head anomaly | NR | Tibial epiphyseal dysplasia and bowing, calcaneovalgus deformity, vertebral and skull anomalies, delayed ossification | Thoracic scoliosis; humeral epiphyseal, sella turcica, vertebral anomalies; hallux valgus | Club foot | Multiple epiphyseal dysplasia (long bones), vertebral anomalies | Vertebral anomalies, prominent dorsal sella, thoracic kyphosis, hallux valgus |
Abbreviations: ND, not determined; NR, not reported; NT, not tested.
a
Report of two affected siblings and affected mother; clinical evaluation of some features not provided for all patients.