Table 5. [Recommended Surveillance for Individuals with Saul-Wilson Syndrome]. - GeneReviews®

System/Concern	Evaluation	Frequency
Constitutional	Measure HT, WT, & HC using growth curves standardized for SWS.	At each visit
Development	Monitor developmental progress / educational needs.	At each visit in young children
Musculoskeletal	To evaluate fine & gross motor skills, mobility, & activities of daily living	Annually
Assess osteoarticular pain.	At each visit starting in young adulthood
DXA scan for bone fragility	As needed based on history
Flexion-extension radiograph Flexion-extension MRI if instability & compression on radiographs or limited interpretation on radiographs	Per orthopedist based on clinical findings or planned surgery
Eyes	Complete eye exam for: Those known to have rod-cone dystrophy: BVCA, refractive error, dark adaptation, & visual field testing Those not known to have rod-cone dystrophy (See Table 3.) All patients: cataracts	Annually
Hearing	Audiologic eval to determine type & extent of hearing loss or success of intervention	Annually
Other	Obtain complete blood counts to assess neutrophil count.	Annually (or as needed during acute infections)

System/Concern

Evaluation

Frequency

Constitutional

Measure HT, WT, & HC using growth curves standardized for SWS.

At each visit

Development

Monitor developmental progress / educational needs.

At each visit in young children

Musculoskeletal

To evaluate fine & gross motor skills, mobility, & activities of daily living

Annually

Assess osteoarticular pain.

At each visit starting in young adulthood

DXA scan for bone fragility

As needed based on history

Flexion-extension radiograph
Flexion-extension MRI if instability & compression on radiographs or limited interpretation on radiographs

Per orthopedist based on clinical findings or planned surgery

Eyes

Complete eye exam for:

Those known to have rod-cone dystrophy: BVCA, refractive error, dark adaptation, & visual field testing
Those not known to have rod-cone dystrophy (See Table 3.)
All patients: cataracts

Annually

Hearing

Audiologic eval to determine type & extent of hearing loss or success of intervention

Annually

Other

Obtain complete blood counts to assess neutrophil count.

Annually (or as needed during acute infections)

From: Saul-Wilson Syndrome

GeneReviews^® [Internet].

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

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