Table 5.

Recommended Evaluations Following Initial Diagnosis in Individuals with Shprintzen-Goldberg Syndrome

System/ConcernEvaluationComment
Neurodevelopment Assessment for developmental disabilitiesReferral for early intervention services; consider referral to neurodevelopmental specialist.
Craniofacial
  • Physical exam
  • Head CT to evaluate sutures if craniosynostosis suspected
To identify cleft palate & craniosynostosis
Musculoskeletal Referral to orthopedist &/or radiographs as indicatedTo evaluate for C1/C2 abnormality, scoliosis, severe pectus deformity, abnormal joint mobility, & foot malposition
Cardiovascular EchocardiogramTo evaluate for aortic root dilatation
Consider MRA or CT scan w/3D reconstruction from head to pelvis.To identify arterial aneurysms & arterial tortuosity throughout the arterial tree
Ophthalmology Exam by ophthalmologist w/expertise in connective tissue disordersTo evaluate for myopia & complications of proptosis
Neurology Brain MRITo evaluate for Chiari I malformation
Other Consultation w/clinical geneticist &/or genetic counselor

From: Shprintzen-Goldberg Syndrome

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