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Hajdu Cheney Syndrome.

Shini Susan Samuel1, Shrinath Shetty2, Gautham Arunachal3

  • 1Assistant Professor, Department of Dental Surgery, Christian Medical College , Vellore, India .

Journal of Clinical and Diagnostic Research : JCDR
|April 5, 2016
PubMed
Summary
This summary is machine-generated.

Hajdu-Cheney Syndrome, a rare genetic disorder causing bone destruction, often goes undiagnosed until adulthood. This case highlights its presentation with severe periodontitis and dental issues in a 26-year-old male.

Keywords:
AcroosteolysisCraniofacial dysmorphismPeriodontitis

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Area of Science:

  • Genetics
  • Rare Diseases
  • Bone Metabolism

Background:

  • Hajdu-Cheney Syndrome (HCS) is a rare autosomal dominant disorder.
  • Characterized by progressive focal bone destruction, HCS onset is from birth but diagnosis is often delayed.
  • Sporadic cases have also been reported, adding complexity to its genetic profile.

Observation:

  • A 26-year-old male presented with severe periodontitis and premature tooth loss.
  • The patient exhibited characteristic craniofacial dysmorphism, digit abnormalities, and dental anomalies.
  • These features prompted further investigation into a potential underlying systemic disorder.

Findings:

  • The case confirmed Hajdu-Cheney Syndrome as the underlying diagnosis.
  • The presentation underscores the variability in HCS manifestation and delayed diagnosis.
  • Severe periodontitis and premature tooth loss can be key indicators in adult patients.

Implications:

  • Early recognition of craniofacial and dental abnormalities is crucial for identifying HCS.
  • Multidisciplinary specialist evaluation can lead to earlier diagnosis and management.
  • Timely diagnosis can prevent advanced disease progression and improve patient outcomes.