Characteristics and basioccipital findings of patients with CHARGE syndrome
| Patient No. | ||||||||
|---|---|---|---|---|---|---|---|---|
| 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | |
| Sex | Male | Male | Male | Female | Female | Female | Male | Female |
| CHARGE features | ||||||||
| C | + | + | – | + | – | + | + | – |
| H | + | + | – | – | + | + | – | + |
| A | – | – | – | – | – | – | – | – |
| R | + | + | + | + | + | + | + | + |
| G | + | + | + | – | – | – | + | + |
| E | + | + | + | + | + | + | + | + |
| Others, CL | – | – | + | + | + | – | + | – |
| Genetics | ||||||||
| Mutation | 7367C→G | 550C→T | 4171delC | 4480C→T | 5050G→A | 4036C→T | 5355G→A | NE |
| Amino acid | S2456X | Q184X | 1391 fs X1403 | R1494X | G1684S | Q1346X | W1785X | |
| Age at occipital evaluation (yr) | 3.7 | 6.7 | 6.9 | 7.6 | 8.5 | 9.6 | 11.0 | 21.0 |
| Basiocciput* | Mild hypoplasia | Severe hypoplasia | Normal | Severe hypoplasia | Severe hypoplasia | Severe hypoplasia | Severe hypoplasia | Severe hypoplasia |
| Basilar invagination | – | – | – | + | + | + | + | + |
| Chiari I malformation | – | – | – | + | – | – | – | – |
| Syringomyelia | – | – | – | + | – | – | – | – |
| Neurologic sequelae | – | – | – | + | – | – | – | – |
| Length (mm) | ||||||||
| Ba-Es (SD) | 15.0 (−2.2) | 12.5 (−3.7) | 23.1 (−0.4) | 9.5 (−5.0) | 12.1 (−5.1) | 7.3 (−15.8) | 10.9 (−6.1) | 16.0 (−2.7) |
| Ba-Xs (SD) | 16.0 (−1.4) | 9.9 (−4.8) | 22.5 (−0.2) | 6.0 (−6.8) | 9.8 (−6.5) | 6.4 (−7.8) | 8.8 (−7.4) | 11.3 (−3.5) |
Note:—C indicates coloboma; H, congenital heart defect; A, atresia or stenosis of choanae; R, retarded growth or development and/or central nervous system anomalies; G, genital hypoplasia; E, ear anomalies and/or deafness; CL, cleft lip and/or palate; +, present; –, absent; NE, not evaluated; Ba, basion; Es, endo-sphenobasion; Xs, exo-sphenobasion.
* Mild hypoplasia, length of either Ba-Es or Ba-Xs <2 SDs with a maintained triangular shape; moderate hypoplasia, length of either Ba-Es or Ba-Xs <2 SDs without a maintained triangular shape; severe hypoplasia, length of either Ba-Es and Ba-Xs <2 SDs compared with age-matched control values without a maintained triangular shape.