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In which of the following clinical scenarios would an urgent ophthalmology consultation be warranted to mitigate potential irreversible complications of the primary pathology?
A 4-year old male with proportionate dwarfism secondary to an autosomal recessive mutation resulting in L-alpha iduronidase deficiency.
A 5-year old male with proportionate dwarfism secondary to an X-linked recessive mutation resulting in sulpho-iduronate-sulphatase deficiency
A 6-year old female with 2 months of persistent left knee swelling and associated stiffness, intermittent fever, and elevated ESR.
A 7-year old male with developmental delay, dolichostenomelia, and positive urine nitroprusside test secondary to a cystathionine b-synthase deficiency.
A 10-year old developmentally normal male with dolichostenomelia, generalized ligamentous laxity, and pecrus carinatum.
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Which of the following statements is FALSE regarding juvenile idiopathic arthritis(JIA)?
To meet diagnostic criteria, persistent arthritis must occur in any joint for greater than 6 weeks before the age of 16 years
Radiographic evaluation may be unremarkable
Cervical involvement may lead to atlantoaxial instability
A patient with suspected JIA should undergo slit lamp examination by an ophthalmologist
Definitive diagnosis of JIA is confirmed by serologic evaluation
What is the peak period of onset in children with pauciarticular juvenile rheumatoid arthritis?
Before age 2 years
Between the ages of 2 and 4 years
Between the ages of 4 and 8 years
Between the ages of 8 and 12 years
A 4-year-old female is brought by her parents in regard to a right sided limp that improves during the day and has been present for two months. She is found to have a right knee effusion and associated soft-tissue swelling with no redness or warmth. Lab work reveals negative Rheumatoid factor, a positive low titer ANA and a normal WBC. Radiographs are normal for her age. What additional work up does she need?
MRI of the pelvis
Clotting factor levels