Nested stromal epithelial tumor of the liver in Beckwith-Wiedemann syndrome
. Pediatr Dev Pathol.
Bohne et al., "Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome
provides insight into distal enhancer regulation and tumorigenesis," Pediatric Blood & Cancer, vol.
Chen et al., "High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome
," Human Genetics, vol.
: imprinting in clusters revisited.
The differential diagnosis for this disorder includes Beckwith-Wiedemann Syndrome
, Klippel-Trenaunay-Weber Syndrome, Neurofibromatosis, lymohangiomatosis, hemangiomatosis, and Mafucci's Syndrome.
The 16-month-old suffers from the rare Beckwith-Wiedemann syndrome
, an overgrowth disorder which puts him at risk of cancer and other illnesses.
The Huntingdon star has Beckwith-Wiedemann Syndrome
which causes large body size and other symptoms.
It was reported as both a single anomaly and together with some syndromes, such as Type I Ehlers-Danlos Syndrome (#130000), Cat Eye Syndrome (#115470) and Beckwith-Wiedemann Syndrome
London, May 28 ( ANI ): The mutation responsible for IMAGe syndrome - a rare disorder that stunts infants' growth - has been identified, and surprisingly it occurs on the same gene that causes Beckwith-Wiedemann syndrome
, which makes cells grow too fast, leading to very large children.
Included in those hazards is a ten-fold increase of Beckwith-Wiedemann Syndrome
, which causes unevenly sized limbs, an enlarged tongue, and a high risk of kidney tumours.
horseshoe kidney, hypospadias, undescended testes), congenital aniridia, WAGR syndrome (aniridia, mental retardation, genito-urinary abnormalities), congenital hemihypertrophy, Beckwith-Wiedemann syndrome
, and Denys-Drash syndrome (renal disease, pseudo-hermaphroditism).
, placental abnormalities, and gestational proteinuric hypertension.