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. Author manuscript; available in PMC: 2021 Dec 21.
Published in final edited form as: AIMS Mol Sci. 2021 Dec 9;8(4):257–274. doi: 10.3934/molsci.2021020

Table 3.

Craniofacial and velopharyngeal features of the patients with 22q11.2 deletions.

Case 1 Case 2 Case 3 Case 4 Case 5 Case 6 Case 7 Case 8 Case 9 Case 10 Case 11 Case 12 Case 13 Case 14 Case 15 Case 16
Deletion regions A A A A A-D A-D A-D A-D A-D A-D A-D C-D D-E D-E D-E E-F
Hypertelorism + + +
Frontal Bossing + +
Low set ears +
Micrognathia + +
Cleft palate/VPI S S S V
Small head circumference at birth <5th centile + +
Small head circumference at 28 months <5th centile +
High palate arch + +
Ear canal atresia +
Periauricular tag + +
Brachycephalic +
Retrognathia +
Malocclusion +
Glottic web + +
Upslanting palpebral fissure +
Dysmorphic facies +
Prominent nasal bridge +
Microtia +
Almond shaped eyes
Thin upper lip
Smooth philtrum

Notes: S, submucous cleft palate; VPI/V, velopharyngeal insufficiency.