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Beckwith-Wiedemann
Syndrome
"This page is for families and
individuals who are looking for information on Beckwith-Wiedemann
Syndrome."
This page is dedicated to my daughter Diana.
I am happy to report that as of February 2005, Diana is a happy
five-year-old doing well in her Miami kindergarten class.
She suffers no medical problems but still undergoes occasional
exams to check for the growth of tumors in her liver or kidneys.
Diana participated in some speech therapy but no longer exhibits
profound problems with her slightly over-sized tongue.
Recent photographs of her can be seen at Diana's Photos
Beckwith-Wiedemann Syndrome (BWS) is one of the most common
congenital overgrowth syndromes, affecting slightly more than one in
13,700 births. Extensive controversy surrounds the mode of transmission of
this condition; an autosomal dominant inheritance pattern with variable
penetrance has been favored, although recent evidence suggests a
multifactorial inheritance. BWS is a complex of congenital findings
including macroglossia, omphalocele, gigantism, advanced bone age,
visceromegaly, miocrocephaly, renal medullary dysplasia, facial nevi, and
distinctive ear creases.
Patients with BWS have a well-recognized increased risk for development
of neoplasias, with reports of 5-10% of patients developing embryonal
tumors. Approximately 40% of neoplasias are associated with
hemihypertrophy. Tumors associated with BWS include Wilms' tumor,
adrenocortical carcinoma, hepatoblastoma, gonadoblastoma,
rhabdomyosarcoma, and neuroblastoma. Thus, a correct diagnosis of BWS
insures appropriate screening for malignancy in affected patients and may
stimulate screening of family members for possible involvement.
Over 500 cases of BWS have been reported since the first descriptions
with almost all cases being diagnosed by physical examination in the
postnatal period. Given the increased risk of birth trauma associated with
gigantism or omphalocele and the potentially fatal sequence of severe
hypoglycemia and congestive heart failure, in utero diagnosis is
important.
The most common in utero findings of BWS are macrosomia, omphalocele,
visceromegaly, and polyhydramnios. Macroglossia was identified in five of
11 published cases and has been reported as a manifestation in 82% to 98%
of cases. Although macroglossia is the most common clinical finding, this
characteristic is not limited to this syndrome but may be seen with
lymphangioma, hemangioma, rhabdomyosarcoma, and hypothyroidism.
Prenatal diagnosis of macrosomia and omphalocele in BWS ensures that a
proper mode of delivery can be chosen for the affected fetus. In cases of
omphalocele, many practitioners have chosen cesarean delivery to
facilitate coordination of efforts between pediatric surgery and
neonatology in early abdominal wall repair and to avoid possible trauma to
extracorporeal fetal organs.
As 60% of infants with BWS can exhibit profound hypoglycemia,
aggressive monitoring and treatment of hypoglycemia and hypocalcemia are
essential to prevent seizures and corticosteroids may be necessary to
treat resistant hypoglycemia. |
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