Features | Yobb et al. 2005 | Bi et al. 2012 | Vaz et al. 2015 | This study (case 23) |
---|---|---|---|---|
22q11.2 region | 4 copies (3/1) | 4 copies (2/2) | 4 copies (3/1) | 4 copies (2/2) |
Age at last evaluation | 8 years | 29 mounts | 20 years | 11 years |
Gender | Female | Male | Female | Male |
Heart defect | – | – | + | + |
Velopharyngeal insufficiency | – | – | + | – |
Hearing impairment | + | + | + | – |
Failure to thrive | – | – | – | + |
Sleep apnea | – | N/D | + | – |
Urogenital abnormalities | – | N/D | + | – |
Cognitive deficits | + | + | + | + |
Psychiatric disorders | – | N/D | + | – |
Behavioural problems | + | N/A | – | – |
Headache | – | N/D | + | – |
Recurrent infections | + | – | – | – |
Hand/foot abnormality | + | + | – | – |
Dysmorphic and other features | Epicanthal folds, Broad nasal bridge, Left ear pit, Secondary hearing impairment | Left preauricular pit, Plagiocephaly, Facial asymmetry, Teeth abnormality, Hypoplastic iris and corectopia | Long narrow face, Epicanthal folds, Hypertelorism, Downslanting palpebral fissures, Prominent nose, Long philtrum, Dental cavities, Retrognathia, | Round face, Hypertelorism, Downslanting palpebral fissures Broad nasal bridge, Long philtrum, Overfolded helix, Hypoplasia of clivus |