Dr. Marsh gives a brief overview of elective tongue reduction surgery for BWS patients.

easy Mnemonic for BECKWITH WIEDEMANN SYNDROME.

Macroglossia happens when your tongue is enlarged or oversized. It’s also called a “big tongue". In most cases, macroglossia is a symptom of an underlying condition. The condition might be congenital (present at birth) or acquired (developed later in life). However, it’s possible to be born with macroglossia without a known underlying cause.

General genetic discussion of BWS from the Beckwith-Wiedemann Children's Foundation International DVD.

Mercy Clinic Kids Plastic Surgery Dr. Earl Gage talks about tongue reduction surgery and how it can reduce the abnormalities caused by the large tongue.

The Beckwith-Wiedemann syndrome (BWS) is the most
common and the best-known congenital overgrowth syndrome.
It was named after Beckwith who in 1963 described three unrelated
patients with exomphalos, hyperplasia of the kidneys and
pancreas, and adrenal cytomegaly. Wiedemann in 1964 reported
a familial form of omphalocele with macroglossia. The incidence
is estimated to be about 1 in 13,700 births.
CLINICAL FEATURES
1. Variable phenotypic expression
2. Prenatal and postnatal overgrowth (gigantism) (cardinal
feature)
a. Large or above normal size baby at birth
b. Eventual somatic gigantism in most cases
c. Advanced bone age
d. Hemihyperplasia or hemihypertrophy (13%)
3. Performance
a. Varying intelligence
i. Normal
ii. Mild-moderate mental retardation from undetected
hypoglycemic episodes during infancy
b. Seizures in some cases
4. Craniofacial features
a. Macroglossia (cardinal feature)
i. Chronic alveolar hypoventilation
ii. Anterior open bite
b. Ear-lobe grooves or indented ear lesions on the posterior
rim of the helix or concha
c. Nevus flammeus
d. Midfacial hypoplasia
e. Prominent occiput
5. Abdominal wall defect
a. Omphalocele (cardinal feature)
b. Umbilical hernia
c. Diastasis recti
6. Gastointestinal anomalies
a. Malrotation anomalies
b. Dome-shaped defect of the diaphragm
7. Visceromegaly
a. Hepatomegaly (frequent)
b. Nephromegaly (frequent)
c. Cardiomegaly
d. Occasional clitoromegaly
e. Hyperplastic pancreas, bladder, uterus, and thymus
8. Neoplasms (7.5%)
a. Benign tumors
i. Adrenal adenoma
ii. Carcinoid tumor
iii. Fibroadenoma
iv. Fibrous hamartoma
v. Ganglioneuroma
vi. Myxoma
b. Malignant tumors
i. Wilms tumor (most frequent)
ii. Adrenocortical carcinoma
iii. Hepatocellular carcinoma
iv. Glioblastoma
v. Neuroblastoma
vi. Rhabdomyosarcoma
vii. Malignant lymphoma
viii. Pancreatoblastoma
ix. Teratoma
9. Additional features
a. Polyhydramnios
b. Prematurity
c. Enlarged placenta
d. Hemangioma
e. Other renal anomalies
i. Medullary dysplasia
ii. Duplicated collecting system
iii. Nephrocalcinosis
iv. Medullary sponge kidney
v. Cystic changes
vi. Diverticula
10. Adult phenotype
a. Hemihyperplasia
b. Prominent jaw
c. Enlarge tongue
d. Ear creases and pits
e. Enlarged kidneys and other abdominal organs
f. Normal height

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