Table 1. Growth/developmental and craniofacial features of 7q11.23 microduplication syndrome.
| Somerville et al20 | Kriek et al5 | Torniero et al12 | Kirchhoff et al4 | Depienne et al2 | Berg et al1 | Torniero et al12 | Van der Aa et al13 | Orellana et al7 | Velleman and Mervis14 | Malenfant et al6 | Dixit et al3 | Prontera et al9 | Zarate et al15 | Parrott et al8 | Morris et al16 | Patil et al17 | Present Case | Total | % | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Number of cases | 1 | 2 | 1 | 1 | 1 | 7 | 2 | 14 | 1 | 42 | 1 | 8 | 1 | 5 | 9 | 64 | 2 | 1 | 163 | |
| Growth and development | ||||||||||||||||||||
| Delayed speech | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 7/7 | 2/2 | 13/13 | 1/1 | 41/42 | 1/1 | 7/8 | 1/1 | 4/5 | 5/9 | NA | 2/2 | 0/1 | 89/98 | 91 |
| Delayed motor | 1/1 | 0/2 | 0/1 | 0/1 | 1/1 | 6/7 | 2/2 | 11/14 | 1/1 | NA | NA | 6/8 | 1/1 | 4/5 | 4/9 | NA | 1/2 | 1/1 | 39/56 | 70 |
| Short stature | 1/1 | 0/2 | 0/1 | 0/1 | 1/1 | 0/7 | 0/2 | 2/14 | 1/1 | NA | 1/1 | 2/8 | 0/1 | 1/5 | 1/9 | 3/45 | 0/2 | 0/1 | 13/102 | 13 |
| Obesity | 0/1 | 0/2 | 1/1 | 0/1 | 0/1 | 1/7 | 0/2 | 0/14 | 0/1 | NA | 0/1 | 1/8 | 0/1 | 0/5 | 1/9 | 14/50 | 0/2 | 1/1 | 19/107 | 18 |
| Craniofacial features | ||||||||||||||||||||
| Cranial | ||||||||||||||||||||
| Craniosynostosis/abnormal head shape | 1/1 | 2/2 | 0/1 | 0/1 | 0/1 | 0/7 | 1/2 | 1/14 | 1/1 | NA | 1/1 | 0/8 | 0/1 | 0/5 | 0/9 | 47/64 | 1/2 | 0/1 | 55/121 | 45 |
| Macrocephaly | 0/1 | 0/2 | 1/1 | 0/1 | 0/1 | 1/7 | 0/2 | 1/14 | 0/1 | NA | 0/1 | 0/8 | 1/1 | 0/5 | 1/9 | 32/64 | 1/2 | 0/1 | 38/121 | 31 |
| Face/neck | ||||||||||||||||||||
| Asymmetric face | 1/1 | 1/2 | 1/1 | 0/1 | 0/1 | 0/7 | 0/2 | 0/14 | 1/1 | NA | 1/1 | 0/8 | 0/1 | 0/5 | 0/9 | 54/64 | 1/2 | 0/1 | 60/121 | 50 |
| Round face | 0/1 | 0/2 | 1/1 | 0/1 | 0/1 | 0/7 | 0/2 | 0/14 | 0/1 | NA | 0/1 | 0/8 | 0/1 | 0/5 | 0/9 | 0/64 | 0/2 | 1/1 | 2/121 | 2 |
| Short neck | 0/1 | 0/2 | 1/1 | 0/1 | 0/1 | 0/7 | 1/2 | 0/14 | 0/1 | NA | 0/1 | 0/8 | 0/1 | 0/5 | 0/9 | 0/64 | 0/2 | 1/1 | 3/121 | 2 |
| Forehead | ||||||||||||||||||||
| Broad | 0/1 | 0/2 | 0/1 | 1/1 | 0/1 | 0/7 | 0/2 | 5/14 | 1/1 | NA | 0/1 | 6/8 | 0/1 | 0/5 | 1/9 | 40/64 | 2/2 | 0/1 | 56/121 | 46 |
| Straight brow line | 0/1 | 0/2 | 0/1 | 0/1 | 0/1 | 0/7 | 0/2 | 9/14 | 0/1 | NA | 0/1 | 7/8 | 0/1 | 0/5 | 1/9 | 33/64 | 2/2 | 0/1 | 52/121 | 43 |
| High/prominent | 1/1 | 0/2 | 0/1 | 0/1 | 0/1 | 4/7 | 1/2 | 0/14 | 0/1 | NA | 0/1 | 0/8 | 0/1 | 0/5 | 0/9 | 13/64 | 1/2 | 0/1 | 20/121 | 17 |
| Eyes | ||||||||||||||||||||
| Deep set eyes | 0/1 | 0/2 | 0/1 | 0/1 | 0/1 | 0/7 | 0/2 | 6/14 | 0/1 | NA | 0/1 | 4/8 | 0/1 | 0/5 | 0/9 | 29/64 | 1/2 | 0/1 | 40/121 | 33 |
| Hypertelorism | 0/1 | 0/2 | 0/1 | 0/1 | 0/1 | 1/7 | 0/2 | 4/14 | 0/1 | NA | 0/1 | 5/8 | 0/1 | 0/5 | 1/9 | 1/64 | 0/2 | 0/1 | 12/121 | 10 |
| Strabismus | 0/1 | 0/2 | 1/1 | 0/1 | 0/1 | 0/7 | 1/2 | 0/14 | 1/1 | NA | 0/1 | 0/8 | 0/1 | 0/5 | 0/9 | 0/64 | 0/2 | 1/1 | 4/121 | 3 |
| Narrow/short palpebral fissures | 0/1 | 0/2 | 0/1 | 1/1 | 0/1 | 0/7 | 0/2 | 0/14 | 0/1 | NA | 0/1 | 0/8 | 0/1 | 0/5 | 1/9 | 0/64 | 0/2 | 0/1 | 2/121 | 2 |
| Astigmatism | 0/1 | 0/2 | 0/1 | 0/1 | 0/1 | 1/7 | 0/2 | 0/14 | 1/1 | NA | 0/1 | 0/8 | 0/1 | 0/5 | 0/9 | 0/64 | 0/2 | 0/1 | 2/121 | 2 |
| Optic disc abnormalities | 0/1 | 0/2 | 0/1 | 0/1 | 0/1 | 0/7 | 0/2 | 1/14 | 0/1 | NA | 0/1 | 0/8 | 0/1 | 0/5 | 0/9 | 0/64 | 0/2 | 1/1 | 2/121 | 2 |
| Nose | ||||||||||||||||||||
| High/broad tip | 1/1 | 0/2 | 0/1 | 0/1 | 0/1 | 4/7 | 0/2 | 8/14 | 1/1 | NA | 1/1 | 5/8 | 0/1 | 2/5 | 0/9 | 49/64 | 1/2 | 0/1 | 72/121 | 56 |
| Ears | ||||||||||||||||||||
| Abnormal/overfolded helix | 0/1 | 0/2 | 0/1 | 0/1 | 1/1 | 3/7 | 0/2 | 0/14 | 1/1 | NA | 0/1 | 2/8 | 0/1 | 0/5 | 0/9 | 27/64 | 0/2 | 1/1 | 35/121 | 29 |
| Posteriorly rotated | 0/1 | 0/2 | 1/1 | 0/1 | 0/1 | 2/7 | 2/2 | 4/14 | 0/1 | NA | 0/1 | 4/8 | 0/1 | 0/5 | 1/9 | 7/64 | 0/2 | 0/1 | 21/121 | 17 |
| Low set | 0/1 | 0/2 | 1/1 | 0/1 | 0/1 | 1/7 | 1/2 | 3/14 | 1/1 | NA | 1/1 | 3/8 | 0/1 | 2/5 | 1/9 | 0/64 | 1/2 | 0/1 | 15/121 | 12 |
| Prominent/protruding | 0/1 | 0/2 | 0/1 | 1/1 | 0/1 | 0/7 | 0/2 | 0/14 | 0/1 | NA | 0/1 | 3/8 | 0/1 | 0/5 | 0/9 | 11/64 | 0/2 | 0/1 | 15/121 | 12 |
| Mouth/jaw | ||||||||||||||||||||
| Columella anomaly | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 50/64 | NA | NA | 50/64 | 78 |
| Thin upper lip | 0/1 | 0/2 | 1/1 | 0/1 | 0/1 | 4/7 | 1/2 | 12/14 | 0/1 | NA | 1/1 | 5/8 | 0/1 | 0/5 | 0/9 | 52/64 | 1/2 | 0/1 | 77/121 | 64 |
| Short philtrum | 1/1 | 0/2 | 1/1 | 0/1 | 0/1 | 3/7 | 1/2 | 6/14 | 0/1 | NA | 1/1 | 6/8 | 0/1 | 2/5 | 0/9 | 37/64 | 2/2 | 0/1 | 60/121 | 50 |
| High arched palate | 1/1 | 0/2 | 0/1 | 0/1 | 0/1 | 1/7 | 0/2 | 0/14 | 1/1 | NA | 0/1 | 0/8 | 0/1 | 0/5 | 0/9 | 28/64 | 0/2 | 0/1 | 31/121 | 26 |
| Retrognathia/micrognathia | 1/1 | 0/2 | 0/1 | 0/1 | 1/1 | 0/7 | 1/2 | 0/14 | 1/1 | NA | 0/1 | 0/8 | 1/1 | 0/5 | 0/9 | 19/64 | 1/2 | 0/1 | 25/121 | 21 |
| Cleft lip/cleft palate | 0/1 | 0/2 | 0/1 | 0/1 | 0/1 | 2/7 | 0/2 | 0/14 | 1/1 | NA | 0/1 | 1/8 | 0/1 | 0/5 | 0/9 | 0/64 | 0/2 | 0/1 | 4/121 | 3 |
| Dental malocclusion/overcrowding | 1/1 | 0/2 | 0/1 | 0/1 | 0/1 | 1/7 | 0/2 | 0/14 | 1/1 | NA | 0/1 | 0/8 | 0/1 | 0/5 | 0/9 | 0/64 | 0/2 | 0/1 | 3/121 | 2 |