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1 in 50,000 people [5] Treacher Collins syndrome ( TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. [5] The degree to which a person is affected, however, may vary from mild to severe. [5] Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. [5]
Edward Treacher Collins. Edward Treacher Collins (28 May 1862 – 13 December 1932) was a British surgeon and ophthalmologist. [1] He is best known for describing the Treacher Collins syndrome . Family grave of Edward Treacher Collins in Highgate Cemetery.
Pierre Robin sequence (/ p j ɛər r ɔː ˈ b æ̃ /; 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.
But on January 11, when Fisher gave birth, doctor's diagnosed her baby with a rare condition called Treacher Collins syndrome, which is a rare congenital disorder characterized by facial, such as ...
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. If severe, it may result in difficulties in breathing due to obstruction of the trachea ...
Hematology. Diamond–Blackfan anemia ( DBA) is a congenital erythroid aplasia that usually presents in infancy. [3] DBA causes low red blood cell counts ( anemia ), without substantially affecting the other blood components (the platelets and the white blood cells ), which are usually normal. This is in contrast to Shwachman–Bodian–Diamond ...
Researchers have found that most patients with Treacher Collins syndrome have symmetric external ear canal abnormalities and symmetrically dysmorphic or absent ossicles in the middle ear space. Inner ear structure is largely normal. Most patients show a moderate hearing impairment or greater, and the type of loss is generally a conductive ...
First arch syndrome. Specialty. Medical genetics. First arch syndromes are congenital defects caused by a failure of neural crest cells to migrate into the first pharyngeal arch. [1] They can produce facial anomalies. Examples of first arch syndromes include Treacher Collins syndrome and Pierre Robin syndrome .