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The etiology of microtia in children remains uncertain but there are some cases that associate the cause of microtia with genetic defects in multiple or single genes, altitude, and gestational diabetes. [3] Risk factors gathered from studies include infants born underweight, male sex, women gravidity and parity, and medication use while pregnant.
Microtia is a congenital deformity where the auricle (external ear) is underdeveloped. A completely undeveloped pinna is referred to as anotia. Because microtia and anotia have the same origin, it can be referred to as microtia-anotia. [16] Microtia can be unilateral (one side only) or bilateral (affecting both sides).
Atresia, microtia, otitis media and other outer/middle ear abnormalities, as well as infants with sensorineural hearing loss, will require the use of bone-conduction ABR testing. Infants who have a considerable amount of amniotic fluid in their middle ear space may need to be tested with BCABR. This fluid usually disappears by 48 hours after birth.
These malformations can be in the form of preauricular ear pits, complete absence of the auricle, stenosis or atresia of the external auditory canal, ossicular malformations, middle ear deformities, and incomplete pneumatization of the temporal bone.
The isolated cause, a cause not associated with a syndrome, of anotia or microtia is not known, though it is believed to be of genetic basis. Developmentally, anotia/microtia occurs when certain tissues associated with the auricle do not develop. This rare defect may occur as part of a syndrome or as an isolated abnormality.
CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder.First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, restricted growth or development, genital or urinary abnormalities, and ear abnormalities and deafness. [1]
Congenital stenosis or atresia of the external auditory canal (narrow or blocked ear canal). Ear canal stenosis & atresia can exist independently or may result from congenital malformations of the auricle such as microtia or anotia. Acquired stenosis (narrowing) of the external auditory canal following surgery or radiotherapy
Anal atresia or imperforate anus is seen in about 55 to 90 percent of patients with VACTERL association. These anomalies are usually noted at birth. [7] It often require surgery in the first days of life. Sometimes babies will require several surgeries to fully reconstruct the intestine and anal canal. [5]