Postpubertal cherubism with Noonan syndrome.
1Department of Prosthodontics, Islamic International Dental College (IIDC), Riphah International University, Islamabad.
Summary
Cherubism, a rare genetic disorder, causes facial swelling and dental issues in young adults. This case highlights a rare association with Noonan syndrome, emphasizing the need for genetic diagnosis and family counseling.
Area of Science:
- Genetics
- Oral and Maxillofacial Surgery
- Pediatric Dentistry
Background:
- Cherubism is an autosomal dominant, self-limiting fibro-osseous lesion affecting the craniofacial region.
- It is primarily linked to mutations in the SH3BP2 gene on chromosome 4p16.3.
- Clinical manifestations include bilateral jaw swelling, premature tooth loss, and malocclusion.
Observation:
- The case report details a rare presentation of cherubism.
- The patient exhibited characteristic cherubic facial features and dental abnormalities.
- Associated features suggestive of Noonan syndrome were observed.
Findings:
- The study identifies a rare co-occurrence of cherubism and Noonan syndrome.
- This association underscores the genetic heterogeneity and potential syndromic links of cherubism.
- Diagnostic challenges and management strategies for such complex cases are highlighted.
Implications:
- Accurate genetic diagnosis is crucial for effective management and treatment planning.
- Early genetic counseling for affected families can aid in reducing incidence.
- Understanding these syndromic associations improves patient care and prognosis.
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