Table 2:

Characteristics and basioccipital findings of patients with CHARGE syndrome

Patient No.
12345678
SexMaleMaleMaleFemaleFemaleFemaleMaleFemale
CHARGE features
    C+++++
    H+++++
    A
    R++++++++
    G+++++
    E++++++++
Others, CL++++
Genetics
    Mutation7367CG550CT4171delC4480CT5050GA4036CT5355GANE
    Amino acidS2456XQ184X1391 fs X1403R1494XG1684SQ1346XW1785X
Age at occipital evaluation (yr)3.76.76.97.68.59.611.021.0
Basiocciput*Mild hypoplasiaSevere hypoplasiaNormalSevere hypoplasiaSevere hypoplasiaSevere hypoplasiaSevere hypoplasiaSevere 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.