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He is best known for describing the Treacher Collins syndrome.
Provides support, networking and education for individuals who are affected by Treacher Collins syndrome.
There is a set of typical symptoms within Treacher Collins Syndrome.
There are other diseases which have similar characteristics as Treacher Collins Syndrome.
In approximately 40 percent of cases, Treacher Collins syndrome has autosomal dominant inheritance.
The presentation of symptoms in people with Treacher Collins Syndrome varies.
The combination of a Tessier number 6-7-8 is seen in the Treacher Collins syndrome.
Treacher Collins syndrome is a very rare genetic disorder resulting in deformities of the skull.
It is sometimes equated with Treacher Collins syndrome.
The cause of Treacher Collins Syndrome is unknown but it has been connected to the following possibilities.
The specific symptoms and physical characteristics associated with Treacher Collins syndrome may vary greatly from case to case.
Individuals with Treacher Collins syndrome often have both cleft palate and hearing loss, in addition to other disabilities.
It is not known how loss of the treacle protein causes the specific problems with facial development found in Treacher Collins syndrome.
Hemifacial microsomia shares many similarities with Treacher Collins syndrome.
The diagnosis of Treacher Collins Syndrome relies upon clinical and radiographic findings.
Techniques for correcting Treacher Collins syndrome.
These syndromes include Treacher Collins syndrome and Pierre Robin sequence.
The facial appearance resembles that of Treacher Collins Syndrome, but there are additional limb abnormalities in those patients.
Hearing loss in Treacher Collins Syndrome is caused by deformed structures in the outer and middle ear.
These clefts are also seen in various syndromes like Treacher Collins syndrome and hemifacial microsomia, which makes the treatment much more complicated.
For Treacher Collins syndrome patients a proper management of symptoms and needs results in a life expectancy that approximates that of the general population.
Such as Treacher Collins syndrome, Robin sequence, head and neck surgery with supraglottic or glottic obstruction).
Attempts to surgically reconstruct the external auditory canal and improve hearing in children with Treacher Collins Syndrome have not yielded positive results.
The presence of an abnormally shaped skull is not distinctive for Treacher Collins Syndrome but brachycephaly with bitemporal narrowing is sometimes observed.
Patients with Treacher Collins syndrome exhibit hearing losses similar to those of patients with malformed or missing ossicles (Pron et al., 1993).