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

System/Concern	Evaluation	Comment
Musculoskeletal	Clinical assessment for upper- & lower-extremity anomalies X-rays if needed by orthopedist	Referral to orthopedist as needed
Hematologic	Blood cell count to evaluate for thrombocytopenia & anemia	Bone marrow biopsies to confirm hypomegakaryocytic bone marrow are typically no longer performed. Platelet function is somewhat impaired, suggesting that drugs such as NSAIDS (incl aspirin) should be avoided or monitored carefully.
Cardiac	Echocardiography	To identify septal defects or other structural cardiac anomalies
Gastrointestinal	Assess for poor weight gain, failure to thrive, vomiting, or diarrhea. Assess for episodes of severe gastroenteritis.	Cow's milk allergy or intolerance is frequent; consider non-cow's milk formula. Cow's milk allergy & gastroenteritis may precipitate thrombocytopenia.
Genitourinary	Renal ultrasound exam Assess renal function w/serum electrolyte concentrations, BUN, & creatinine in those w/renal malformation. Pelvic ultrasound exam in females	To identify genitourinary malformations & renal dysfunction
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of TAR syndrome 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

Musculoskeletal

Clinical assessment for upper- & lower-extremity anomalies
X-rays if needed by orthopedist

Referral to orthopedist as needed

Hematologic

Blood cell count to evaluate for thrombocytopenia & anemia

Bone marrow biopsies to confirm hypomegakaryocytic bone marrow are typically no longer performed.
Platelet function is somewhat impaired, suggesting that drugs such as NSAIDS (incl aspirin) should be avoided or monitored carefully.

Cardiac

Echocardiography

To identify septal defects or other structural cardiac anomalies

Gastrointestinal

Assess for poor weight gain, failure to thrive, vomiting, or diarrhea.
Assess for episodes of severe gastroenteritis.

Cow's milk allergy or intolerance is frequent; consider non-cow's milk formula.
Cow's milk allergy & gastroenteritis may precipitate thrombocytopenia.

Genitourinary

Renal ultrasound exam
Assess renal function w/serum electrolyte concentrations, BUN, & creatinine in those w/renal malformation.
Pelvic ultrasound exam in females

To identify genitourinary malformations & renal dysfunction

Genetic
counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of TAR syndrome 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: Thrombocytopenia Absent Radius Syndrome

GeneReviews^® [Internet].

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

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