Hypophosphatemic Vitamin D Resistant Rickets Mallory Hornberger: Date: 10/22/2008

Patient: Jordan Hutchings Age: 11 Gender: Male Height: 4’0” Weight: 65lbs Vital Signs: HR: 85B.P.M. Normal Respiratory rate: 18 R.P.M. Normal Blood Pressure: 102/60 mmHg Temperature: 97°F Chief complaint Complains of tooth ache in mandibular #22 canine. Medical Alert None Name of Syndrome: Hypophosphatemic Vitamin D Resistant Rickets Cause of Syndrome - Medical History (if applicable) X linked dominant inheritance pattern and is the result of the mutation of the PHEX gene. The protein is thought to be involved in bone and dentin mineralization and renal phosphate absorption. Calcitriol: Vitamin D Analog; dose:.25 mcg Metallic taste/ xerostomia Human Growth Hormone: Hormone; 5 mg; no adverse affects

Orofacial Clinical Features There would be no real facial disfigurements noted with a patient with this problem. Age/race/sex predilections and Systemic Clinical Features: Age: Can occur in early childhood or have an adult onset. Most common in children though. Most people with this will be short in stature and possibly struggle with back problems. This syndrome is common in males and females equally. Systemic: Patients undergoing extreme treatment for this would exhibit bone deformations such as areas of weak formation and areas of too much. Commonly during extractions these patients are at a higher fracture risk. Clinical: Cracks in teeth or broken teeth. Loose teeth. Gingival abscesses. Radiographic Features of this Syndrome Many periapical abscesses are common, possible cracks in dentin or enamel, jaw bone may also be weak. Root dysplasia and enlarged pulp champers and pulp horns have also been noted.

Special considerations in Treatment of this patient? How is it Diagnosed? How common is it? Is it a horse or zebra? The patient would need to have a pano and periapical radiographs fairly often to check for bone health and if periapical abscesses are developing in more areas. This would also check to see if there are cracks in dentin and if they are spreading through the dentinoenamel junction. These cracks can induce fractures of the enamel and have exposures to the pulp causing infection. The patient can also show gingival abscesses as well that can be viewed clinically. During extraoral examination lymphadenitis, swelling of the glands, can be found often. These features are very common in people with vitamin d resistant rickets and should be watched closely. Treatment as far as medication is concerned is usually ineffective with vitamin D treatment. Calcium bone building medications and phosphorous pills are often seen on a patients medical history. Some children may be on the human growth hormone as well. Many of the above features are horses. They should be continually watched for good reason that this horse could become a zebra.

Intraoral Findings

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