Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with LPIN2-Related Majeed Syndrome

System/ConcernEvaluationComment
Constitutional Measurement of growth parametersTo assess for failure to thrive &/or poor growth
Musculoskeletal Radiographs or MRI of any painful &/or red, swollen limbs or jointsTo assess for evidence of osteomyelitis
Assessment for delayed motor milestonesTypically due to pain from recurrent osteomyelitis
Gastrointestinal Physical exam to evaluate for hepatosplenomegalyIf present, abdominal ultrasound to assess degree of organomegaly
Hematologic Measurement of CBC w/differentialTo screen for microcytic anemia & neutropenia
IntegumentFull skin examTo assess for signs of dermatosis
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of LPIN2-related Majeed syndrome to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

CBC = complete blood count; MOI = mode of inheritance

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: LPIN2-Related Majeed Syndrome

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