Table 4. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Growth	Measurement of growth & assessment of body proportions using age-appropriate growth charts ¹
Skeletal	Orthopedic eval for symptoms of joint pain or evidence of scoliosis or kyphosis Assessment for osteopenia at diagnosis or w/in 1 yr of diagnosis
Renal	Eval of renal function by measurement of serum concentrations of creatinine & urea, protein excretion in urine, & creatinine clearance Referral to nephrologist for eval
Immunology	Immunology eval to evaluate numbers of memory & naïve CD4 & CD8 T cells, B cells, & immunoglobulin levels
Hematology	Assess for neutropenia, anemia, & thrombocytopenia.
Gastrointestinal	Assess for signs/symptoms of enteropathy.
Dental	Dental eval after teeth erupt
Eyes	Ophthalmologic eval for corneal opacities
Development	Assessment of developmental status
Neurologic	Detailed history for headaches &/or neurologic abnormalities Blood pressure Consider brain MRI w/vessel imaging & perfusion studies (arterial spin labeling).	Baseline imaging of brain is recommended to allow comparison w/future imaging during acute neurologic changes.
Endocrine	Thyroid function studies
Malignancy	Eval should be considered based on clinical signs/symptoms.
Genetic counseling	By genetics professionals ³	To inform affected persons & families re nature, MOI, & implications of SIOD to facilitate medical & personal decision making
Family support & resources	Assess need for: Community or online resources such as Parent to Parent; Social work involvement for parental support; Home nursing referral.

System/Concern

Evaluation

Comment

Growth

Measurement of growth & assessment of body proportions using age-appropriate growth charts ¹

Skeletal

Orthopedic eval for symptoms of joint pain or evidence of scoliosis or kyphosis
Assessment for osteopenia at diagnosis or w/in 1 yr of diagnosis

Renal

Eval of renal function by measurement of serum concentrations of creatinine & urea, protein excretion in urine, & creatinine clearance
Referral to nephrologist for eval

Immunology

Immunology eval to evaluate numbers of memory & naïve CD4 & CD8 T cells, B cells, & immunoglobulin levels

Hematology

Assess for neutropenia, anemia, & thrombocytopenia.

Gastrointestinal

Assess for signs/symptoms of enteropathy.

Dental

Dental eval after teeth erupt

Eyes

Ophthalmologic eval for corneal opacities

Development

Assessment of developmental status

Neurologic

Detailed history for headaches &/or neurologic abnormalities
Blood pressure
Consider brain MRI w/vessel imaging & perfusion studies (arterial spin labeling).

Baseline imaging of brain is recommended to allow comparison w/future imaging during acute neurologic changes.

Endocrine

Thyroid function studies

Malignancy

Eval should be considered based on clinical signs/symptoms.

Genetic
counseling

By genetics professionals ³

To inform affected persons & families re nature, MOI, & implications of SIOD to facilitate medical & personal decision making

Family support
& resources

Assess need for:

Community or online resources such as Parent to Parent;
Social work involvement for parental support;
Home nursing referral.

From: Schimke Immunoosseous Dysplasia

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

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