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Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip and mandible on usually one side of the body. Common clinical manifestations include limbal dermoids , preauricular skin tags and strabismus . [ 1 ]
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.
This can be an isolated phenomenon or can occur as part of a syndrome where development of the 1st and 2nd branchial arches is seen such as in Goldenhar syndrome, Treacher Collins syndrome, branchio-oto-renal syndrome etc. Barotrauma, unequal air pressures in the external and middle ear. [4]
Hemifacial microsomia (HFM) is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible.It usually occurs on one side of the face, but both sides are sometimes affected.
Goldenhar syndrome; H. Harlequin-type ichthyosis; Heart disorders (Congenital heart defects) Hemifacial microsomia; Holoprosencephaly; Huntington's disease;
There is a known association with Goldenhar syndrome (oculo-auriculo-vertebral syndrome) [8] and with Wildervanck syndrome. [9] [10] [11] There may also be an association with congenital cartilaginous rest of the neck. [citation needed]
Living among a small band of Neanderthals in what is now eastern Spain was a child, perhaps 6 years old, with Down syndrome, as shown in a remarkable fossil preserving traits in the inner ear ...
Around 15-20% of newborns with Down syndrome are also diagnosed with some degree of congenital hearing loss. [13] Children with Down syndrome commonly have glue ear, which can lead to infections in the ear, and may cause hearing loss. [14] Glue ear is a condition in which the middle part of the ear behind the eardrum fills with fluid. [15]