Table 6.

Treatment of Manifestations in Individuals with Shprintzen-Goldberg Syndrome

Manifestation/
Concern		TreatmentConsiderations/Other
DD Early intervention servicesConsider consultation w/developmental pediatrician or neurodevelopmental specialist.
Craniosynostosis
& cleft palate 		Mgmt by craniofacial teamTreatment as in other disorders w/these manifestations
Cervical spine
instability 		Treatment per orthopedistSurgical fixation may be necessary.
Scoliosis Treatment per orthopedist
Pectus excavatum Treatment per orthopedistMay be severe; rarely, surgical correction indicated for medical reasons
Joint contractures Physiotherapy may help ↑ mobility.
Clubfoot deformity Treatment per orthopedistMay require surgical correction
Aortic dilatation Treatment w/beta-adrenergic blockers or other medications per cardiologistShould be considered in order to ↓ hemodynamic stress
Aneurysms Surgical intervention may be indicated; per vascular surgeon.
Myopia Treatment per ophthalmologist
Abdominal hernia Surgical repair may be indicated.

DD = developmental delay

From: Shprintzen-Goldberg Syndrome

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