Type:
Educational Exhibit
Keywords:
Paediatric, Ear / Nose / Throat, Eyes, CT, MR, Ultrasound, Computer Applications-Detection, diagnosis, Genetic defects
Authors:
M. Gallego Riol1, L. Montsech Angulo2, S. ARENAS MORENO2, S. Lojo Lendoiro3, R. Herrero Herrero4; 1Mérida/ES, 2Badajoz/ES, 3Mérida, Badajoz/ES, 4San Sebastian/ES
DOI:
10.1594/ecr2018/C-1516
Findings and procedure details
CHARGE is a mnemonic for Coloboma (Fig. 1 Fig. 2 Fig. 3),
Heart defects,
choanal Atresia,
Retarded growth and development (Fig. 7),
Genital abnormalities and Ear anomalies (Fig. 4,
Fig. 5,
Fig. 6).
Diagnostic criteria for CHARGE syndrome,
a multiple malformation syndrome,
are based on a combination of major and minor diagnostic characteristics.
As described by Blake et al (1998),
and modified by Amiel et al (2001) and Verloes (2005).
- Definite CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics.
- Probable/possible CHARGE syndrome. Individuals with one or two major characteristics and several minor characteristics.
Major Diagnostic Characteristics of CHARGE Syndrome
Characteristics
|
Manifestations
|
Frequency
|
Characteristic CHARGE syndromeear
|
Outer ear: short,
wide ear with little or no lobe,
"snipped off" helix,
prominent antihelix that is often discontinuous with tragus,
triangular concha,
decreased cartilage; often protruding and usually asymmetric.
|
80%-100%
|
Middle ear: ossicular malformations
|
Mondini defect of the cochlea (determined by CT of the temporal bones). Fig. 4.
|
Temporal bone abnormalities; absent or hypoplastic semicircular canals (determined by CT of the temporal bones). Fig. 5, Fig. 6.
|
Ocular coloboma
|
Coloboma of the iris,
retina,
choroid,
disc,
microphthalmos.
Fig. 1, Fig. 2 and Fig. 3.
|
80%-90%
|
Choanal atresia orstenosis (confirmed by non-enhanced CT scan in axial sections)
|
Unilateral/bilateral: bonyormembranous atresia/stenosis
|
50%-60%
|
Cranial nerve dysfunction
|
I: hyposmia or anosmia
|
Frequent
|
VII: facial palsy (unilateral or bilateral)
|
>40%
|
VIII: hypoplasia of auditory nerve
|
Frequent
|
IX/X: swallowing problems with aspiration
|
70%-90%
|
Menor Diagnostic Characteristics of CHARGE Syndrome
Characteristics
|
Manifestations
|
Frequency
|
Developmental delay Fig. 7
|
Delayedmilestones,
hypotonia
|
≤100%
|
Genital hypoplasia
|
Males: micropenis,
cryptorchidism
Females: hypoplastic labia
|
50%-60%
|
Males and females: delayed puberty secondary to hypogonadotropichypogonadism
|
Frequent
|
Cardiovascular malformation
|
Including conotruncal defects,
atrioventricular canal defects,
and aortic arch anomalies
|
75%-85%
|
Growth deficiency
|
Short stature,
usually postnatal with or without growth hormone deficiency
|
70%-80%
|
Distinctive facial features
|
Square face with broad prominent forehead,
prominent nasal bridge and columella,
flat midface.
|
70%-80%
|
Orofacialcleft
|
Cleftlip and/orpalate
|
15%-20%
|
Tracheoesophageal (TE) fistula
|
TE defects of all types
|
15%-20%
|
Occasional findings include the following:
- Microphtalmia/anophthalmia
- Intra-uterine growth retardation
- Omphalocele or umbilical hernia
- Bony scoliosis or hemivertebrae
- Renal anomalies including dysgenesis,
horseshoe/ectopic kidney
- Hand anomalies including polydactyly,
altered palmar flexion creases,
atypical split hand/split foot deformity.