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It is believed to be caused by defects of genes on chromosome 3 and 18. One form of Seckel syndrome can be caused by mutation in the gene encoding the ataxia telangiectasia and Rad3-related protein which maps to chromosome 3q22.1–q24. This gene is central in the cell's DNA damage response and repair mechanism. Types include: [6]
Preauricular sinuses and cysts result from developmental defects of the first and second pharyngeal arches. [10] This and other ear malformations are sometimes associated with renal anomalies. [ 11 ] In rare circumstances these pits may be seen in genetic conditions such as branchio-oto-renal syndrome ; however these conditions are always ...
Organized research began after World War II with the recognition of E. coli III as a source and cause of epidemic diarrhea, and the development of a treatment for histoplasmosis. In 2009, among free-standing children's hospitals, The Research Institute ranked 9th based on NIH funding and amongst all other pediatric research organizations ranked ...
There is a birth defect of the ear that is visible and relatively common around the world. It is called preauricular sinus which, according to the U.S. National Institutes of Health, or NIH ...
An Ohio hospital successfully performed its first in utero fetal surgery to repair a birth defect in a nearly 23-week-old fetus, making it one of few elite medical facilities in the U.S. capable ...
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]
Protruding ear, otapostasis or bat ear is an abnormally prominent human ear. It may be unilateral or bilateral. The concha is large with poorly developed antihelix and scapha. It is the result of malformation of cartilage during primitive ear development in intrauterine life. [1] The deformity can be corrected anytime after five years of age.
The recommended treatment is that the skin is peeled off the extra-auricular tissue and protruding cartilage remnants are trimmed. [13] Normal appearance is achieved in majority of cases. The reconstruction successful in true cases of accessory auricle, as it also is in individuals with auricular appendages. [14] [15]