Table 6.

Recommended Surveillance for Individuals with LPIN2-Related Majeed Syndrome

System/ConcernEvaluationFrequency
Growth Measurement of growth parametersAt each visit
Musculoskeletal Assessment of joints for range of motion or contractures
Hepatosplenomegaly Physical exam for hepatosplenomegaly
Abdominal ultrasoundAs clinically indicated, for those who have hepatosplenomegaly
Immunologic ESR & CRP levels to monitor level of inflammationAt each visit
Hematologic CBC w/differential to assess for anemia & neutropeniaEvery 6 mos
IntegumentFull skin exam to assess for signs of dermatosisAt each visit

CBC = complete blood count; CRP = C-reactive protein; ESR = erythrocyte sedimentation rate

From: LPIN2-Related Majeed Syndrome

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