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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.
[3] [5] Women with trisomy X average higher schizotypy, reporting higher levels of introversion, magical thinking, and impulsivity. [17] Around 30% are affected by thought problems and 13% have been diagnosed with psychotic or bipolar disorders. [18] Schizophrenic women are more likely to have trisomy X than the general female population. [24]
In 2016, journalist Tom Junod wrote an article about Whitton's disappearance in Esquire, seeing the media silence on the case as an exception to what is called missing white woman syndrome. While Whitton is white, her troubled past and criminal record made her a less attractive subject to report on, he noted; her mother complained that some ...
XY complete gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas , [ 1 ] the person has underdeveloped gonads, fibrous tissue termed " streak gonads ", and if left untreated, will not experience puberty .
MURCS association (a variant of Mayer-Rokitansky-Küster-Hauser syndrome) is a very rare developmental disorder [2] that primarily affects the reproductive and urinary systems involving MUllerian agenesis, Renal agenesis, Cervicothoracic Somite abnormalities. [3]
Mandy Sellars (born 20 February 1975 in Lancashire, United Kingdom) is a British woman with a rare genetic mutation that has resulted in extraordinary growth in both of her legs. In 2006, some doctors diagnosed Sellars as having Proteus syndrome , a very rare condition thought to affect only 120 people worldwide, [ 1 ] but more recent diagnoses ...
Complete trisomy 8 causes severe abnormalities in the developing fetus and can be a cause of miscarriage. [2] [3] Complete trisomy 8 is usually a gestational lethal condition, whereas trisomy 8 mosaicism is less severe and individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay. [4]
Pierre Robin sequence-faciodigital anomaly syndrome, also known as Chitayat Meunier Hodgkinson syndrome, is a very rare genetic disorder which is characterized by the signs typical of Pierre Robin sequence along with facial dysmorphisms and digital anomalies. Intellect is not affected.