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Peters' (frequently misspelled as Peter's) anomaly is a specific type of mesenchymal anterior segment dysgenesis, in which there is central corneal leukoma, adhesions of the iris and cornea and abnormalities of the posterior corneal stroma, Descemet's membrane, corneal endothelium, lens and anterior chamber.
Duane syndrome is a congenital rare type of strabismus most commonly characterized by the inability of the eye to move outward. The syndrome was first described by ophthalmologists Jakob Stilling (1887) and Siegmund Türk (1896), and subsequently named after Alexander Duane , who discussed the disorder in more detail in 1905.
Axenfeld–Rieger syndrome is a rare autosomal dominant [2] disorder, which affects the development of the teeth, eyes, and abdominal region. [3]Axenfeld–Rieger syndrome is part of the so-called iridocorneal or anterior segment dysgenesis syndromes, [4] which were formerly known as anterior segment cleavage syndromes, anterior chamber segmentation syndromes or mesodermal dysgenesis.
Daniel Kahneman, who won the 2002 Nobel Memorial Prize in Economics for his work developing prospect theory. Prospect theory is a theory of behavioral economics, judgment and decision making that was developed by Daniel Kahneman and Amos Tversky in 1979. [1]
The diagnosis for this syndrome is based on clinical findings on a physical exam and the presence of a heterozygous SALL4 pathogenic variant. [4] During the physical exam, Duane-radial ray syndrome is clinically established by the following clinical findings: Duane anomaly Limitation of abduction of the eye; Retraction of the globe
Most chromosome abnormalities occur as an accident in the egg cell or sperm, and therefore the anomaly is present in every cell of the body. Some anomalies, however, can happen after conception, resulting in Mosaicism (where some cells have the anomaly and some do not). Chromosome anomalies can be inherited from a parent or be "de novo". This ...
Kleeblattschaedel (Kleeblattschädel) is German for "cloverleaf skull". [6] The disorder was named Kleeblattschaedel syndrome in 1958. [7] The German word is sometimes used in medical English, where it is often regarded as more or less naturalized, thus appearing in any combination of capitalized or not, with umlaut diacritic or not, and italicized or not.
Caudal duplication syndrome is a rare condition with only less than 100 patients in literature worldwide as of 2014 with only 2 patients diagnosed in adulthood. [6] The prevalence of the syndrome is less than one per 100,000 births. [5] The sex ratio of male to female patients is about 1:2, with no familial or racial predisposition being found ...