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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 4.

Treatment of Manifestations in Individuals with Donnai-Barrow Syndrome

Manifestation/
Concern
TreatmentConsiderations/Other
Diaphragmatic hernia Surgical repair 1Postoperative assessment of respiratory function to determine if there is ↑ risk for long-term respiratory problems
Omphalocele Surgical repair 1
Myopia Corrective lensesPeripheral laser photocoagulation may minimize risk of retinal detachment resulting from high myopia.
Retinal
detachment
Treatment per ophthalmologist
Hearing loss Hearing aid &/or cochlear implant per ENT
Seizures Standardized treatment w/AEDs by experienced neurologistMany different AEDs may be effective; none has been shown effective specifically for this disorder.
Hypovitaminoses Supplementation as neededMonitoring of serum vitamins A & D (25-hydroxyvitamin D)

AEDs = antiepileptic drugs; ENT = ear, nose, and throat (specialist)

1.

Surgical repair of omphalocele and/or diaphragmatic hernia appears to pose no greater risk than repair of these defects in children with other genetic syndromes.

From: Donnai-Barrow Syndrome

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