PATIENT | 1 | 2 | 3 | 4 | 5 | 6 | 7 | # Lit. | References |
---|---|---|---|---|---|---|---|---|---|
PHENOTYPE | Â | Â | Â | Â | Â | Â | Â | Â | Â |
Craniofacial | Â | Â | Â | Â | Â | Â | Â | Â | Â |
Hypertelorism | + | + | + | - | + | + | + | 14 | [1-4, 6, 10, 12, 14, 16, 19, 25, 28, 45] |
Low/rotated ears | + | + | + | - | + | + | + | 24 | [1-4, 6-8, 10-17, 19-22, 25, 28, 45] |
Nasal bridge | Â | Â | + | - | Â | + | + | 14 | [1, 2, 6, 7, 12, 13, 17, 19, 22, 25, 46] |
Arched/cleft palate | Â | + | Â | - | Â | + | Â | 15 | [2, 3, 6, 8, 10-12, 15-17, 20, 25, 28] |
Micrognathia | Â | Â | + | - | Â | + | + | 11 | [4, 6, 11, 12, 14, 17, 20, 25] |
Short neck | Â | Â | + | - | Â | + | + | 13 | [1, 2, 6, 10-12, 15, 17, 20] |
Ocular | Â | Â | Â | Â | Â | Â | Â | Â | Â |
Anterior Segment | + | + | + | + | + | + | + | 17 | [1-4, 6, 10, 14, 16, 18, 19, 21, 28, 45] |
Microphthalmia | Â | + | - | - | Â | + | Â | 3 | [4, 8, 15] |
Nystagmus | Â | + | - | + | Â | Â | Â | 3 | [4, 15, 22] |
Skeletal | Â | Â | Â | Â | Â | Â | Â | Â | Â |
Chest | Â | - | Â | - | + | - | Â | 8 | [1, 4, 8, 11, 12, 22] |
Spine | Â | + | + | - | + | + | + | 3 | [8, 28, 46] |
Hands | Â | Â | + | - | Â | + | + | 22 | [1, 2, 4, 6-8, 10, 12, 13, 17, 19-22, 25, 45, 46] |
Feet | Â | + | + | - | Â | + | Â | 17 | [1, 2, 4, 8, 10, 12, 15, 17, 19, 20, 22, 25, 45, 46] |
Joints | Â | Â | - | Â | Â | + | Â | 6 | [6, 8, 17, 22, 25, 46] |
Cardiac | Â | Â | Â | Â | Â | Â | Â | Â | Â |
VSD | Â | - | + | - | Â | - | - | 6 | [4, 12, 13, 15, 16, 22] |
PDA | Â | + | Â | - | + | - | - | 9 | [12-14, 16, 20-22, 45] |
PFO | Â | + | + | - | + | - | - | Â | Â |
ASD | Â | Â | Â | - | + | - | - | 6 | [3, 4, 12, 19, 45] |
Other | Â | + | + | Â | Â | Â | Â | 10 | [1, 2, 4, 8, 10-12, 22, 25, 28] |
Hydrocephaly | + | + | + | - | + | - | - | 11 | [2, 3, 6, 8, 12, 14, 17, 18, 20, 25, 45] |
Renal | Â | + | Â | - | Â | + | Â | 6 | [1, 8, 12, 15, 20, 21] |
Hearing Impairment | Â | + | + | Â | Â | + | - | 9 | [1, 10, 17-19, 25, 45, 46] |
Nipples | Â | + | + | - | Â | Â | + | 10 | [1, 2, 6, 12, 17, 21, 46] |
Genitalia | Â | + | - | - | Â | - | Â | 12 | [1, 2, 7, 10-12, 16, 21, 22, 45, 46] |
Finger/toenails | Â | Â | + | - | + | Â | Â | 8 | [1, 3, 7, 12, 15, 20, 25] |
Eczema | Â | Â | + | - | Â | Â | Â | 1 | [10] |