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WAGR syndrome (also known as WAGR complex, Wilms tumour-aniridia syndrome, aniridia-Wilms tumour syndrome) is a rare genetic syndrome in which affected children are predisposed to develop Wilms' tumour (a tumour of the kidneys), aniridia (absence of the coloured part of the eye, the iris), genitourinary anomalies, and mental retardation. [1]
Müllerian agenesis (including absence of the uterus, cervix and/or vagina) is the cause in 15% of cases of primary amenorrhoea. [2] Because most of the vagina does not develop from the Müllerian duct, instead developing from the urogenital sinus, along with the bladder and urethra, it is present even when the Müllerian duct is completely absent.
Hyperthermia causes anencephaly, which is when part of the brain and skull are absent in the infant. [61] [68] Mother exposure to toxoplasmosis can cause cerebral calcification, hydrocephalus (causes mental disabilities), [69] and intellectual disability in infants. Other birth abnormalities have been reported as well, such as chorioretinitis ...
MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of intellectual disability in women. ARX: Aristaless related homeobox, is a protein associated with intellectual disability and lissencephaly. This gene is a homeobox-containing gene expressed ...
Compounds such as carbon monoxide, sulfur dioxide and nitrogen dioxide all have the potential to cause serious damage when inhaled by an expecting mother. [23] Low birth weight, preterm birth, intrauterine growth retardation, and congenital abnormalities have all been found to be associated with fetal exposure to air pollution. [24]
The ancient Greek method for treating a prolapsed uterus that has extended through and beyond the vaginal introitus. Notable is the mention of vaginal anomalies and pelvic organ prolapse in older cultures and locations. [78] In 1500 B.C. Egyptians wrote about the "falling of the womb".
The two Müllerian ducts have fused, but the partition between them is still present, splitting the system into two parts. With a complete septum the vagina, cervix and the uterus can be partitioned. Usually the septum affects only the cranial part of the uterus. A uterine septum is the most common uterine malformation and a cause for ...
The study of X-linked mental retardation began in 1943 when Martin and Bell reported a family exhibiting sex-linked mental retardation. [3] However, this syndrome was not recognized until 1991. Wilson studied 14 males from three successive generations that presented hypogonadism, mental retardation, gynecomastia , and short stature, among other ...