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Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
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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

Journal of the Indian Society of Pedodontics and Preventive Dentistry
|January 29, 2011
PubMed
Summary
This summary is machine-generated.

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.

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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.