Whole genome "jumping libraries" of a prenatal sample identified a translocation breakpoint that disrupted chromodomain helicase DNA binding protein 7 (CHD7), a causal locus in the CHARGE syndrome (coloboma of the eye, heart defects, atresia of the choanae
, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness), otherwise unidentifiable with current screening technology, the knowledge of which assists with prenatal counseling (68).
These are: C: Coloboma of the eye, central nervous system anomalies; H: Heart defects; A: Atresia of the choanae
R: Retardation of growth and/or development G: Genital and/or urinary defects (Hypogonadism) E: Ear anomalies and/or deafness.
Examination of the oral and nasal cavities while the animal was anesthetized revealed mucous entering the oral cavity through the nasal choanae
and hyperemic nasal mucosa.
Charge syndrome is a rare autosomal dominant disorder with multiple cardinal features, such as colobomas resulting in visual impairment, heart defects, vestibular malfunction, retarded growth, atresia choanae
, and deafness (Pagon, Graham, Zonana, & Young, 1981), affecting approximately 1 in 10,000 babies (Sanlaville & Verloes, 2007).
rounded, not concealed by palatal shelf of maxillary arch; dentigerous processes of vomers prominent, oblique and moderately separated from each other, median and posterior to choanae
, each bearing row of 4-7 teeth; tongue oval, notched posteriorly; 2/3 of its extension adherent to floor of mouth; males with vocal slits and subgular vocal sac; long vocal slits, lateral to tongue.
They are C - Coloboma of the eye, H - Heart defects, A - Atresia of the choanae
, R - Retardation of growth, G - Genital and/or urinary defects and E - Ear anomalies.
In the choanae
and nasal septae, stellate scars, ulcers, and honeycomb necrotic patches covered with yellow pus (Figure 1, panel B) were seen.
After seeing 13 consultants, at the age of 14 months Jamie was also diagnosed with profound deafness and a severe form of Charge syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae
, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness).
CHARGE syndrome; CHARGE stands for coloboma of the eye, heart defects, atresia of the nasal choanae
, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness).
The actual length and the ideal length were each measured at the piriform aperture, at the choanae
, at half the distance from the tip of the nose to the piriform aperture, and at half the distance from the piriform aperture to the choanae
29) based on common features of the syndrome: C-- coloboma of the eye (missing part of iris and/or retina); H--heart defects; A--atresia of the choanae
(bony or membranous blocking of nasal passage); R--retardation of growth and/or development; G--genitourinary anomalies; E--ear anomalies and/or deafness.
Emily was born with CHARGE (coloboma--a cleft, slit, gap, or fissure of the eye; heart defects; atresia of the choanae
[a non-closure of one of the communicating passageways in the upper respiratory system]; retardation of growth and development, and central nervous system abnormalities; genital hypoplasia [small genitalia]; and ear abnormalities which affect several functions of her body).