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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]
The signs and symptoms of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant chronic kidney disease or kidney failure. Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags ), or further malformation or absence of the ...
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.
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 ]
Omphalocele occurs in 1 in 4,000 births and is associated with a high rate of mortality (25%) and severe malformations, such as cardiac anomalies (50%), neural tube defect (40%), exstrophy of the bladder and Beckwith–Wiedemann syndrome. Approximately 15% of live-born infants with omphalocele have chromosomal abnormalities.
Living among a small band of Neanderthals in what is now eastern Spain was a child, perhaps 6 years old, with Down syndrome, as shown in a remarkable fossil preserving traits in the inner ear ...
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 ...