Pediatric Definition - Beckwith Wiedemann Syndrome
Beckwith Wiedemann Syndrome
Beckwith Wiedemann syndrome may be detected by FISH which reveal deletion of 11p15.
The common characteristic of Beckwith Wiedemann syndrome are infantile hypoglycemia, unusual ear crease, macroglossia, macrosomia, hypertelorism, cleft palate, genital urinary congenital defect, Wilms tumor and omphalocele.
The differential diagnosis of Beckwith Wiedemann syndrome are glycogen storage disease type 1 and type 0, Costello syndrome, fetal overgrowth syndrome and Pelman syndrome.
The treatment of Beckwith Wiedemann Syndrome may include surgical treatment for defect in the abdominal wall and intravenous glucose.
Beckwith Wiedemann syndrome may be detected by FISH which reveal deletion of 11p15.
The common characteristic of Beckwith Wiedemann syndrome are infantile hypoglycemia, unusual ear crease, macroglossia, macrosomia, hypertelorism, cleft palate, genital urinary congenital defect, Wilms tumor and omphalocele.
The differential diagnosis of Beckwith Wiedemann syndrome are glycogen storage disease type 1 and type 0, Costello syndrome, fetal overgrowth syndrome and Pelman syndrome.
The treatment of Beckwith Wiedemann Syndrome may include surgical treatment for defect in the abdominal wall and intravenous glucose.
