2014
DOI: 10.1155/2014/947451
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Abstract: Overgrowth syndromes comprise a heterogeneous group of diseases that are characterized by excessive tissue development. Some of these syndromes may be associated with dysfunction in the receptor tyrosine kinase (RTK)/PI3K/AKT pathway, which results in an increased expression of the insulin receptor. In the current review, four overgrowth syndromes were characterized (Proteus syndrome, Klippel-Trenaunay-Weber syndrome, Madelung's disease, and neurofibromatosis type I) and illustrated using cases from our instit… Show more

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Cited by 27 publications
(26 citation statements)
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“…In limb malformations, many syndromes overlap and it is mandatory to go beyond skeletal abnormalities to search for associated manifestations [ 20 ]. For example, the association with hypothalamic hamartoma is always a signature of PHS [ 4 ]; an association with mental retardation may point to Rubinstein syndrome [ 16 ].…”
Section: Discussionmentioning
confidence: 99%
“…In limb malformations, many syndromes overlap and it is mandatory to go beyond skeletal abnormalities to search for associated manifestations [ 20 ]. For example, the association with hypothalamic hamartoma is always a signature of PHS [ 4 ]; an association with mental retardation may point to Rubinstein syndrome [ 16 ].…”
Section: Discussionmentioning
confidence: 99%
“…It is rare, with an estimated incidence of 1:100,000 live births [2]. Cases are sporadic and equally distributed by race and gender.…”
Section: Discussionmentioning
confidence: 99%
“…It is characterised by congenital vascular malformations, varicose veins and a localised disturbed growth of the bone and/or soft tissues, resulting in limb length discrepancy. Its estimated prevalence is 1 in 20 000 to 1 in 100 000 live births 1. Varicosities are more prominent during adolescence and affect both superficial and deep veins 1.…”
Section: Descriptionmentioning
confidence: 99%
“…Its estimated prevalence is 1 in 20 000 to 1 in 100 000 live births 1. Varicosities are more prominent during adolescence and affect both superficial and deep veins 1. Venous thromboembolism is common in patients with KTWS due to localised intravascular thromboses within the malformed vessels; these can embolise and result in pulmonary embolism and subsequent chronic thromboembolic pulmonary hypertension 2.…”
Section: Descriptionmentioning
confidence: 99%