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Proteus syndrome is a rare genetic disorder [1] that can cause tissue overgrowth involving all three embryonic lineages. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development. [2] The clinical symptoms and radiographic findings of Proteus syndrome are highly variable, as are its orthopedic manifestations ...
Bannayan–Riley–Ruvalcaba syndrome; Other names: BRRS: Autosomal dominant is the manner in which this condition is inherited: Specialty: Oncology, medical genetics Symptoms: Enlarged head [1] Causes: Mutations in the PTEN gene [2] Diagnostic method: Based on signs and symptoms [3] Treatment: Based on symptoms [3]
Children with some overgrowth syndromes such as Klippel–Trénaunay syndrome can be readily detectable at birth. [3] In contrast, other overgrowth syndromes such as Proteus syndrome usually present in the postnatal period, characteristically between the second and third year of life. [2]
Sudden unexplained death in childhood (SUDC) is the death of a child over the age of 12 months which remains unexplained after a thorough investigation and autopsy. There has not been enough research to identify risk factors, common characteristics, or prevention strategies for SUDC. SUDC is similar in concept to sudden infant death syndrome ...
Treatment of PROS diseases is variable and depends on the specific disease. Curative treatment does not exist and most treatments are given to control symptoms. Overgrowth and malformations of solid tissues can be treated with surgery. Sclerotherapy can be used to treat vascular malformations. [5]
Subclavian steal syndrome; Sudden death syndrome; Sudden infant death syndrome; Sudden wealth syndrome; Sugarman syndrome; Sulfonamide hypersensitivity syndrome; Summer penile syndrome; Sundowning; Superior mesenteric artery syndrome; Superior orbital fissure syndrome; Superior vena cava syndrome; Supernumerary nipples–uropathies–Becker's ...
It is interesting to note that individuals with two genetic diseases associated with the development of PB have gene mutations involving this pathway, i.e. the Proteus syndrome caused by an activating mutations in the AKT1 gene and the Cowden syndrome caused by a mutation in the PTEN (gene) tumor suppressor gene. [5]
Cohen was born in Boston, Massachusetts, and studied at the University of Michigan, Tufts University, the University of Minnesota, and Boston University.His post-graduate training included a fellowship in pathology and medical genetics with Robert Gorlin (1923–2006), an oral pathologist and geneticist who described a large number of syndromes, including one they delineated together known as ...