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Old 09-25-2011
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Question Rickets Physical Exam?

a child is referred to a pediatric endocrinologist for further management of hypophosphatemia. on review of the family history she notes tht the patient's mother has fasting hypophosphatemia. Lab results show tht the patient has a slightly reduced serum calcium, a moderately low serum phosphate level, elevated ALP activity, and no evidence of secondary hyperparathyroidism. on physical examination, the child is noted to have smooth bowing of the lower extremities, coxa vera, genu varum, genu valgum, and short stature. which if the following is another characteristic seen on physical examination in patients with familial hypophosphatemia also known as vit D-resistant rickets?

a. tetany
b. rachitic rosary
c. harrison's groove (pectus deformity)
d. myopathy
e. waddling gait
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Old 09-25-2011
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B rachitic rosary
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Old 09-25-2011
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b. rachitic rosary
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Old 10-06-2011
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Default sorry guys. answer is E.

familial, or x-linked hypophosphatemia (vit D resistant rickets) is the most common nutritional form of rickets. it is x-linked dominant, so some mothers as well as fathers may have clinical manifestations of the disease. hypophosphatemia occurs becoz of defects in the proximal renal tubular reabsorption of phosphate caused by failure in the conversion of 25-(OH)-vit D to 1,25-(OH)2-vit D. bowing legs is common. in addition these kids have waddling gait (E), and short stature.

calcium levels are normal so they dont have tetany, myopathy, or secondary hyperparathyroidism. Rx with supplemental phosphate and calcitriol. tetany, rachitic rosary, harrison's groove and myopathy are found in calcium deficit rickets.
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Old 10-06-2011
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I'm a little confused with vitamin D resistant rickets. I believe the X-linked hypophosphatemia, is one form of vitamin D resistant rickets. I see in a table previously discussed in old threats about types of rickets, they put vitamin D resistant rickets & X-linked hypophosphatemia as a different entities.
If any one really can help with that.
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