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Enamel hypoplasia. Enamel hypoplasia is a defect of the teeth in which the enamel is deficient in quantity, [1] caused by defective enamel matrix formation during enamel development, as a result of inherited and acquired systemic condition (s). It can be identified as missing tooth structure and may manifest as pits or grooves in the crown of ...
Mandibulofacial dysostosis with microcephaly syndrome, also known as growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome, mandibulofacial dysostosis, guion-almeida type, or simply as MFDM syndrome is a rare genetic disorder which is characterized by developmental delays, intellectual disabilities, and craniofacial dysmorphisms.
There are some genetic syndromes, in which hearing loss is one of the known characteristics. Some examples are Down syndrome (aneuploidy), Usher syndrome (autosomal recessive), Treacher Collins syndrome (autosomal dominant), Crouzon syndrome (autosomal dominant), and Alport syndrome (X-linked). Other causes of congenital hearing loss
George Berry (surgeon) Sir George Andreas Berry LLD, FRSE, FRCSEd (6 October 1853 – 18 June 1940) was a Scottish ophthalmic surgeon who acquired a reputation as a leading authority on ophthalmology, not only in the United Kingdom but also in the United States and continental Europe. His standing in the profession was largely the result of his ...
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 ...
Ribosomopathy has been linked to skeletal muscle atrophy, and underpins most Diamond–Blackfan anemia (DBA), the X-linked subtype of dyskeratosis congenita (DKCX), Treacher Collins syndrome (TCS), Shwachman–Diamond syndrome (SDS) and 5q-myelodysplastic syndrome.(5q- MDS),(cite)(cite) North American Indian childhood cirrhosis (NAIC), isolated ...
Amanda Leighton. Amanda Moreno Leighton [1] (born June 7, 1993 [2]) is an American actress. She is known for her voice acting as Blossom in the 2016 Cartoon Network animated series The Powerpuff Girls, Poppy in the 2018 Netflix animated series Trolls: The Beat Goes On!, and Polly Plantar in the 2019 Disney Channel animated series Amphibia.
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 ...