Table 4.

Treatment of Manifestations in Individuals with Saul-Wilson Syndrome

Manifestation/
Concern		TreatmentConsiderations/Other
Delayed
development 		See Developmental Delay Management Issues.
Musculoskeletal Skeletal dysplasia or physiatry clinic (orthopedics, OT/PT, rehab specialist)Address mobility issues in those w/residual foot deformities (post-club foot repair), osteoarticular pain.
Cervical spine
compression 		Surgical mgmt for medullopathy (C1-C2 fixation) by expert familiar w/skeletal dysplasias & spine involvementGiven possibility of C1-C2 subluxation &/or spinal cord compression, follow best practices in perioperative mgmt of those w/skeletal dysplasias. 1
Cataract /
Retinal
dystrophy 		Standard treatment(s) as recommended by ophthalmologistCataracts: Consider surgery when dense to prevent amblyopia
Retinal dystrophy:
  • Night vision scopes or selected wavelength filters 2
  • Community vision services in teen yrs / young adulthood 3
Hearing loss Per treating otolaryngologist:
  • Myringotomy tubes
  • Hearing aids
Community hearing services through early intervention or school district 4
Neutropenia Per treating immunologist or infectious disease specialistIf frequent infections: consider GCSF to improve absolute neutrophil counts. 5
Family/
Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments.
Consider involvement in adaptive sports or Special Olympics.

GCSF = granulocyte colony-stimulating factor; OT = occupational therapist; PT = physical therapist

1.

White et al [2017]. Including cervical spine imaging prior to general anesthesia.

2.

See Nonsyndromic Retinitis Pigmentosa Overview for information about management.

3.

In the US, publicly funded agencies at the state level provide services for the visually impaired or those with progressive eye disorders; services include vocational training, mobility training, and skills for independent living.

4.

See Hereditary Hearing Loss and Deafness Overview for information about management.

5.

From: Saul-Wilson Syndrome

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