Case ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | Total |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Diagnosis | CSS | CSS | A-ID | CSS | CSS | CSS | CSS | CSS | CSS | CSS | CSS | NCBRS | Â |
Sex | F | F | M | F | M | M | F | F | F | M | F | M | Â |
Dysmorphic features | |||||||||||||
Microcephaly | No | No | No | No | Yes | No | No | No | Yes | Yes | Yes | No | 4/12 |
Coarse face | Yes | Yes | No | Yes | No | Yes | Yes | Yes | Yes | No | No | Yes | 8/12 |
Spares hair | No | No | No | No | No | Yes | Yes | No | No | Yes | Yes | No | 4/12 |
Hypertrichosis | Yes | Yes | No | Yes | Yes | No | Yes | Yes | Yes | No | No | Yes | 8/12 |
Narrow forehead | No | Yes | No | No | No | No | No | No | No | Yes | No | No | 2/12 |
Thick eyebrow | Yes | No | Yes | Yes | No | Yes | Yes | Yes | Yes | Yes | Yes | Yes | 10/12 |
Long eyelashes | Yes | No | Yes | Yes | No | Yes | Yes | No | Yes | Yes | No | Yes | 8/12 |
Eyes | Prominent | – | – | Long PF | – | Prominent | – | Puffy eyes | EF, Down slanting PF | Short PF | EF, HT | HT |  |
Flat & broad nasal bridge | No | No | No | Yes | Yes | No | Yes | No | Yes | Yes | Yes | No | 6/12 |
Low-set ears | Yes | No | No | Yes | No | No | Yes | No | Yes | Yes | Yes | No | 6/12 |
Philtrum | – | – | – | Short | – | – | Short | – | Short | – | Long | – |  |
Large mouth | No | No | No | Yes | No | No | No | No | Yes | No | Yes | No | 3/12 |
Thick lips | Yes | No | No | Yes | No | Yes | Yes | Yes | Yes | No | Yes | Yes | 8/12 |
Micrognathia | Yes | No | No | Yes | No | Yes | Yes | No | Yes | Yes | Yes | No | 7/12 |
Hypoplastic terminal phalanx of the 5th finger | No | No | No | No | No | Yes | Yes | No | Yes | No | No | No | 3/12 |
Hypoplastic nail | No | No | No | Yes | No | Yes | Yes | No | No | Yes | No | Yes | 5/12 |
Clinodactyly | No | No | No | Yes | Yes | No | No | No | No | No | No | No | 2/12 |
Congenital anomalies | |||||||||||||
CHD | PFO | PFO | Normal | ASD | Normal | Normal | Normal | Normal | Normal | Normal | VSD | Normal | 4/12 |
GI system | – | CP | – | FD | FD | FD | – | CP | IH | IH, FD | IH, FD | – |  |
Cryptorchidism | – | – | No | – | No | No | – | – | – | Yes | – | Yes | 2/5 |
Laryngomalacia | No | Yes | No | Yes | No | No | No | No | Yes | Yes | No | No | 4/12 |
Frequent infections | No | No | Yes | Yes | Yes | Yes | Yes | Yes | Yes | No | No | No | 7/12 |
Agenesis/hypoplasia of CC | No | No | ND | Yes | No | Yes | Yes | Yes | Yes | Yes | ND | No | 6/12 |
CNS anomaly | Small pons, ARC | Normal | ND | Hypoplasia of OB | Normal | Mega cisterna magna | No | No | No | No | ND | Normal | Â |
Hearing loss | No | No | No | No | Yes | No | No | No | No | Yes | No | No | 2/12 |