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Microtia is a congenital deformity where the auricle (external ear) is underdeveloped. A completely undeveloped auricle is referred to as anotia. Because microtia and anotia have the same origin, it can be referred to as microtia-anotia. [1] Microtia can be unilateral (one side only) or bilateral (affecting both sides).
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.
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).
"20% to 40% of children with microtia/anotia will have additional defects that could suggest a syndrome." [1] Treacher-Collins syndrome: (TCS) A congenital disorder caused by a defective protein known as treacle, and is characterized by craniofacial deformities; malformed or absent ears are also seen in this syndrome. The effects may be mild ...
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
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]
Children may also present cases of abnormal ear canals and low ear implantation. [19] In rare cases, no auricle is formed ( atresia ), or is extremely small ( microtia ). Small auricles can develop when the auricular hillocks do not develop properly.
The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see below).This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.