Abnormal Basiocciput Development in CHARGE Syndrome

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Fig 1.
Measurement of the lengths of Ba-Es (arrow) and Ba-Xs (arrowhead) on a T1-weighted sagittal image (patient 3).
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Fig 2.
Line graph and bars show means and SDs of the length of Ba-Es (A) or Ba-Xs (B) for each age group of healthy controls. White dots show the length of Ba-Es or Ba-Xs of patients with CHARGE syndrome. Pt indicates patient.
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Fig 3.
T1-weighted sagittal images of patients 1 (A) and 4 (B). A, Mild hypoplastic basiocciput (arrowhead). B, Severe hypoplastic basiocciput (arrowhead) with basilar invagination and Chiari type I malformation (arrow).
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Fig 4.
Contribution of the basiocciput, formed by 4 occipital sclerotomes (I-IV), to the lower portion of clivus. The upper potion is formed by the basisphenoid. The spheno-occipital synchondrosis (open arrow) lies in between.

Table 1:

Diagnostic criteria of CHARGE syndrome according to Blake et al¹⁵

Criteria
Major
Coloboma	Coloboma of iris, retina, choroid, disk; microphthalmia
Choanal atresia	Unilateral/bilateral, membranous/bony, stenosis/atresia
Characteristic ear abnormalities	External ear (loop or cup-shaped), middle ear (ossicular malformations, chronic serous otitis), mixed deafness; cochlear defects
Cranial nerve dysfunction	I, Anosmia; VII, facial palsy (unilateral or bilateral); VIII, sensorineural deafness and vestibular problems; IX and/or X, swallowing problems
Minor
Genital hypoplasia	Males: micropenis, cryptorchidism;
	Females: hypoplastic labia;
	Both: delayed incomplete pubertal development
Developmental delay	Delayed motor milestones, hypotonia, mental retardation
Cardiovascular malformations	All types: conotruncal defects (eg, tetralogy of Fallot), arteriovenous canal defects, and aortic arch anomalies
Growth deficiency	Short stature
Orofacial cleft	Cleft lip and/or palate
Tracheoesophageal fistula	Tracheoesophageal defects of all types
Distinctive face	Characteristic facial features

Reprinted with permission from Clinical Pediatrics (1998;37:159–73). Copyright 1998, Sage Publications.

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.

Table 3:

Lengths of Ba-Es and Ba-Xs in control individuals at various ages