Search results
Results from the WOW.Com Content Network
Beckwith–Wiedemann syndrome (/ ˈ b ɛ k ˌ w ɪ θ ˈ v iː d ə. m ə n /; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. A minority (<15%) of cases of BWS are familial, meaning that a close relative may also have BWS, and parents ...
Other conditions, such as Beckwith–Wiedemann syndrome, are associated with abnormalities of imprinted genes on the short arm of chromosome 11. Chromosome 14 is also known to cause particular symptoms such as skeletal abnormalities, intellectual disability, and joint contractures, among others. [7] [8]
Hemihyperplasia is seen in several congenital syndromes including Beckwith-Wiedemann syndrome and Russell-Silver syndrome. [2] Hemihyperplasia is a congenital overgrowth disorder, and the asymmetry can range from mild to severe.
John Bruce Beckwith (September 18, 1933 – January 21, 2025) was an American pediatric pathologist known for helping to identify Beckwith-Wiedemann syndrome, which is partly named after him. He is also known for his role as reference pathologist for the National Wilms Tumor Study Group , a position he held from 1969 until his retirement thirty ...
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 ]
It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer.
Beckwith–Wiedemann syndrome; Behr syndrome; Benedikt syndrome; Benjamin syndrome; Berk–Tabatznik syndrome; Bernard–Soulier syndrome; Bhaskar–Jagannathan syndrome;
Syndromes with an increased incidence of hepatoblastoma include Beckwith–Wiedemann syndrome, trisomy 18, trisomy 21, Acardi syndrome, Li–Fraumeni syndrome, Goldenhar syndrome, von Gierke disease, and familial adenomatous polyposis. [11]