Table 2:

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.