Table 2. Clinical findings observed in patients with 22q11 deletion x patients without 22q11 deletion.
| Individuals diagnosed with 22q11.2 deletion | Without 22q11.2 deletion | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| P12 | P13 | P15 | P22 | P23 | P29 | P31 | n | n | |
| Age | 2 mo | 5 d | 3 mo | 16 d | 14 y | 5 d | 6 mo | ||
| Face dysmorphia | |||||||||
| Skull | |||||||||
| Large anterior fontanel | + | + | 2 | 7 | |||||
| Small anterior fontanel | + | 1 | 0 | ||||||
| Nose | |||||||||
| Nasal bridge, wide | + | + | + | 3 | 11 | ||||
| Nasal bridge, depressed | + | 1 | 2 | ||||||
| Tubular nose | + | 1 | 1 | ||||||
| Nares, anteverted | + | 1 | 1 | ||||||
| Eyes | |||||||||
| Palpebral fissure | + | + | 2 | 4 | |||||
| Epicanthal fold | + | 1 | 2 | ||||||
| Ears | |||||||||
| Low ear implantation | + | 1 | 8 | ||||||
| Microtia | + | 1 | 1 | ||||||
| Overfolded superior helix | + | + | + | + | 4 | 9 | |||
| Skeletal abnormalities | |||||||||
| Ectopic calcification in soft tissue | + | 1 | 0 | ||||||
| Sacral anomalies | + | 1 | 12 | ||||||
| Short neck | + | + | + | 3 | 6 | ||||
| Clinodactyly of the fifth fingers | + | 1 | 10 | ||||||
| Hypoplastic phalanges | + | 1 | 1 | ||||||
| Hypoplastic nails | + | 1 | 2 | ||||||
| Breast abnormalities | |||||||||
| Teletelia | + | + | 2 | 3 | |||||
| Inverted nipple | + | + | 2 | 1 | |||||
| Skin abnormalities | |||||||||
| Café au lait spots | + | 1 | 0 | ||||||
| Neurological alterations | |||||||||
| Delayed psychomotor development | + | 1 | 3 | ||||||
| Endocrine alterations | |||||||||
| Hypocalcemia | + | + | + | 3 | 1 | ||||
| Pseudohypoparathyroidism | + | 1 | 0 | ||||||
| CHD | + | + | + | + | + | + | + | 7 | 35 |
Abbreviations: CHD, congenital heart disease; d, day; mo, month; n, number of patients; P, patient; y, year.