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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]
The key symptoms of PFAPA are those in its name: periodic high fever at intervals of about 3–5 weeks, as well as aphthous ulcers, pharyngitis and adenitis. In between episodes, and even during the episodes, the children appear healthy. At least 6 months of episodes.
Assess the patient to determine if other signs and symptoms are present: flushed face, hot, dry skin, low output, concentrated urine, anorexia, constipation, diarrhea, or vomiting. Older children may complain of sore throat, headaches, aching, and nausea, as well as, other symptoms. [17] Pulse should be checked at distal and proximal sites.
Vaginal hypoplasia can vary in severity from being smaller than normal to being completely absent. The absence of a vagina is a result of vaginal agenesis.Diagnostically, it may look similar to a vaginal obstruction such as can be caused by an imperforate hymen or, less commonly, a transverse vaginal septum.
The median time interval between the onset of symptoms and the diagnosis was 6 years, with a range of 26 days to 14 years. This suggests that the symptoms of MAGIC syndrome may manifest relatively long after the initial onset of symptoms. During the course of MAGIC syndrome, the signs and symptoms of BD may typically occur before those of RP. [4]
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, [1] is a mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome.
Children Act 1989: Relates to: Female Genital Mutilation Act 2003 Serious Crime Act 2015: History of passage through Parliament; Text of statute as originally enacted; Text of the Children Act 1989 (Amendment) (Female Genital Mutilation) Act 2019 as in force today (including any amendments) within the United Kingdom, from legislation.gov.uk.
Initial symptoms of Fournier gangrene include swelling or sudden pain in the scrotum, fever, pallor, and generalized weakness. It is characterized by pain that extends beyond the border of the demarcated erythema. [2] Most cases present mildly, but can progress in hours.