Table 10. [Beckwith-Wiedemann Syndrome: Recommended General (Non-Tumor) Surveillance]. - GeneReviews®

System/Concern	Evaluation	Frequency
Growth	Measurement of growth parameters	At each visit
Endocrine	Pre-feed serum glucose level	Per endocrinologist recommendations in neonates & infants w/history of hypoglycemia or hyperinsulinism, particularly in those who are being treated for hyperinsulinism
Random serum glucose level	In neonates & infants w/signs/symptoms consistent w/hypoglycemia
Respiratory	Monitor for signs/symptoms of sleep apnea ¹	At each visit
Renal	Consideration of renal ultrasound to identify findings such as nephrocalcinosis & medullary sponge kidney	Annually between age 8 yrs & mid-adolescence & periodically in adulthood
Consideration of blood pressure measurements & measurement of urinary calcium-to-creatinine ratio to screen for occult nephrocalcinosis	Annually or biannually
Development	Monitor developmental progress & educational needs.	At each visit
Musculoskeletal	Assessment of hemihyperplasia & leg length discrepancy	At each visit until skeletal maturity
Dental	Dental, w/low threshold for orthodontic, eval	Every 6 mos after eruption of teeth
Hearing	Audiology eval	As clinically indicated
Family/Community	Assess family need for social work support, care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).	At each visit

System/Concern

Evaluation

Frequency

Growth

Measurement of growth parameters

At each visit

Endocrine

Pre-feed serum glucose level

Per endocrinologist recommendations in neonates & infants w/history of hypoglycemia or hyperinsulinism, particularly in those who are being treated for hyperinsulinism

Random serum glucose level

In neonates & infants w/signs/symptoms consistent w/hypoglycemia

Respiratory

Monitor for signs/symptoms of sleep apnea ¹

At each visit

Renal

Consideration of renal ultrasound to identify findings such as nephrocalcinosis & medullary sponge kidney

Annually between age 8 yrs & mid-adolescence & periodically in adulthood

Consideration of blood pressure measurements & measurement of urinary calcium-to-creatinine ratio to screen for occult nephrocalcinosis

Annually or biannually

Development

Monitor developmental progress & educational needs.

At each visit

Musculoskeletal

Assessment of hemihyperplasia & leg length discrepancy

At each visit until skeletal maturity

Dental

Dental, w/low threshold for orthodontic, eval

Every 6 mos after eruption of teeth

Hearing

Audiology eval

As clinically indicated

Family/Community

Assess family need for social work support, care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).

At each visit

From: Beckwith-Wiedemann Syndrome

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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