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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 ]
Dankelson was born in Michigan in the year 2000. [1] He was born 10 weeks early and weighed less than three pounds. [2] He was born with numerous birth defects such as microtia and atresia due to Goldenhar syndrome, and has had 36 surgeries to correct his facial, airway and other deformities. [3]
Maurice Goldenhar (January 15, 1924 – September 11, 2001) was a Belgian–American ophthalmologist and general practitioner. He emigrated from Belgium to the United States in 1940. He later returned to Europe for medical studies, and then returned once again to the United States. [1] He first diagnosed what became known as Goldenhar syndrome ...
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.
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]
Pierre Robin sequence [a] (/ p j ɛər r ɔː ˈ b æ̃ /; [3] abbreviated PRS) is a congenital defect observed in humans which is characterized by facial abnormalities.The three main features are micrognathia (abnormally small mandible), which causes glossoptosis (downwardly displaced or retracted tongue), which in turn causes breathing problems due to obstruction of the upper airway.
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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]