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The cause of Goldenhar syndrome is largely unknown. However, it is thought to be multifactorial, although there may be a genetic component, which would account for certain familial patterns. It has been suggested that there is a branchial arch development issue late in the first trimester. [citation needed]
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.
The signs and symptoms of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant chronic kidney disease or kidney failure. Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags ), or further malformation or absence of the ...
The small condyle can be present either one or both sides of the lower jaw. This type of condition usually happens as part of systemic diseases such as Hemifacial microsomia, Mandibulofacial Dysostosis, Goldenhar syndrome, Hurler syndrome, Proteus syndrome and Morquio syndrome. [2] [3] [4]
Otocephaly, also known as agnathia–otocephaly complex, is a very rare and lethal cephalic disorder characterized by the absence of the mandible (), with the ears fused together just below the chin (synotia).
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 ...
Neurocristopathy is a diverse class of pathologies that may arise from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.
Most causes of conductive hearing loss can be identified by examination but if it is important to image the bones of the middle ear or inner ear then a CT scan is required. CT scan is useful in cases of congenital conductive hearing loss, chronic suppurative otitis media or cholesteatoma, ossicular damage or discontinuity, otosclerosis and ...