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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 ...
Presence of neurological abnormality or macrocephaly can suggest macrocephaly-capillary malformation syndrome. Hemihypertrophy-multiple lipomatosis or Beckwith–Wiedemann syndrome are diseases with total hypertrophy and are associated with an increased risk of Wilms' tumor. [26] [27] About 10% of DCMO cases present with total hemihypertrophy. [3]
As establishing a set of clinical criteria for diagnosis of hemihyperplasia is difficult, the dictum is often used that the clinician should be able to see the asymmetry "from the end of the bed". [1] Hemihyperplasia is seen in several congenital syndromes including Beckwith-Wiedemann syndrome and Russell-Silver syndrome. [2]
Increased risk for liver cancer in children can be caused by Beckwith–Wiedemann syndrome (associated with hepatoblastoma), [49] [50] familial adenomatous polyposis (associated with hepatoblastoma), [50] low birth weight (associated with hepatoblastoma), [26] Progressive familial intrahepatic cholestasis (associated with HCC) [51] and Trisomy ...
Wiedemann–Steiner syndrome (WSS) [2] is a rare genetic disorder that causes developmental delay, unusual facial features, short stature, and reduction in muscle tone . The syndrome was originally described in 1989 [3] by Hans-Rudolf Wiedemann. The genetic basis for the syndrome was identified by Dr. Wendy D. Jones in 2012. [4]
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 ...
Charlie was born deaf with a genetic disorder called Usher syndrome that will eventually cause vision loss as well. "Ultimately it results in progressive hearing loss. In some kids, like in ...
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] In general, children with overgrowth syndromes are at increased risk of embryonic tumor development.