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1/4. X-linked hypophosphatemic rickets--a report of 2 cases and review of literature.

    We report two cases of x-linked dominant hypophosphatemic rickets involving a man and his daughter. The family tree consists of 44 members with 13 of them having short stature and bowing of the lower limbs. The study of this family tree strongly suggests an x-linked dominant inheritance.
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keywords = x-linked
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2/4. Familial hypophosphatemic vitamin d-resistant rickets: review of the literature and report of case.

    Familial hypophosphatemia, commonly known as vitamin d-resistant rickets, is inherited in an x-linked dominant manner. This condition is characterized by impairment of renal tubular reabsorption of inorganic phosphate and is inherited as a sex-linked dominant trait. Early clinical signs, usually detected about two years of age, included lateral bowing of the lower extremities, scoliosis, and frontal bossing. Characteristic dental findings are often the first clinically noticeable signs of the disease. This case report describes the typical dental findings in a 10-year old Hispanic female.
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keywords = x-linked
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3/4. Tibial bowing exacerbated by partial premature epiphyseal closure in sex-linked hypophosphatemic rickets.

    Two girls with sex-linked hypophosphatemic rickets are described in whom premature fusion of the medial proximal tibial epiphyseal plate exacerbated lower-extremity bowing. Early recognition of this complication and appropriate surgical intervention--excision of the bony bridge in the growth plate, or epiphysiodesis of the still open portion of the growth plate--might prevent further shortening or deformity of the affected limb.
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keywords = x-linked
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4/4. spinal canal stenosis with hypophosphatemic vitamin d-resistant rickets: case report.

    A 42-year-old woman with sex-linked hypophosphatemic vitamin d-resistant rickets presented with a 6-month history of progressive weakness and numbness in her lower extremities. Radiological studies revealed severe spinal canal stenosis extending from levels T4 to T10. Her symptoms improved markedly after extensive thoracic laminectomies.
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keywords = x-linked
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