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Familial hypophosphatemic rickets
A Sattur1, V G Naikmasur, R Shrivastava
1Department of Oral Medicine and Radiology, SDM College of Dental Sciences and Hospital, Dharwar, Karnataka, India. atulsattur@gmail.com
Insights
Familial hypophosphatemic rickets, a rare condition causing bone deformities, can manifest with early tooth loss in children. This case highlights the oral and systemic radiographic features of this genetic disorder.
Area of Science:
- Pediatric Endocrinology
- Skeletal Biology
- Dental Radiology
Background:
- Rickets is characterized by the failure of bone mineralization, often linked to vitamin D deficiency.
- Alternatively, decreased serum phosphate levels can impair cartilage and bone mineralization, leading to skeletal deformities and growth issues.
- Hypophosphatemic conditions, including hereditary and acquired diseases, interfere with bone mineralization.
Observation:
- A rare hereditary form, familial hypophosphatemic rickets, was diagnosed in a 9-year-old child.
- The patient presented with a primary complaint of a missing tooth.
- Radiographic imaging was utilized to evaluate both oral and systemic manifestations.
Findings:
- The case highlights the radiographic presentation of familial hypophosphatemic rickets.
- Oral manifestations, such as tooth loss, can be an initial sign of the condition.
- Systemic skeletal changes associated with hypophosphatemia were also assessed radiographically.
Implications:
- Early identification of familial hypophosphatemic rickets is crucial for managing skeletal deformities and growth retardation.
- Recognizing oral symptoms like tooth loss can aid in the early diagnosis of this rare condition.
- Radiographic evaluation plays a vital role in understanding the full scope of oral and systemic involvement.
Abstract:
Rickets is the failure of mineralization of osteoid and newly formed bones in a child skeleton. It is commonly associated with vitamin D deficiency; however, it can be because of a decrease in the serum phosphate levels leading to inadequate mineralization of cartilage and bone, consequent skeletal deformities, and growth retardation. The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases. One of the hereditary types of hypophosphatemic rickets is the familial hypophosphatemic rickets. This rare variety was diagnosed in a 9-year-old patient who had come with a chief complaint of a missing tooth. In the present case, radiographic aspects of oral and systemic manifestations of familial hypophosphatemic rickets are highlighted.
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