Primary care physician
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Initiate referrals to subspecialist, monitor growth and development
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Assess growth parameters and development at each visit
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Development clinic
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Neurocognitive (developmental) and behavioral evaluation
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At time of diagnosis, then annually in childhood
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Geneticist
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Confirmation of diagnosis and periodic follow-up evaluations
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At time of diagnosis, then annually
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Audiology
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Routine audiology evaluation
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At time of diagnosis, then as needed.
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Ophthalmology
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Evaluate for coloboma, visual acuity, nystagmus, strabismus
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At time of diagnosis, then as needed.
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Cardiology
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Echocardiogram to evaluate for congenital heart defects
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At time of diagnosis, then as needed
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Allergy and Immunology
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Immune work-up for recurrent and persistent infections
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As needed
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Endocrine
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Growth hormone studies for growth retardation
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As needed
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Gastroenterology/Feeding and Nutrition
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Feeding assessment for failure to thrive and growth retardation
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As needed
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Neurology
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Brain MRI for structural malformations and EEG for seizures
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As needed
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Orthopedics
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Spine x-rays and scoliosis evaluation
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As needed
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Urology
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Evaluate for genital abnormalities
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As needed
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