A child with 18p- syndrome: a case report
Antoniella Busuttil Naudi1, Diane E Fung
1Department of Paediatric Dentistry, Royal Hospital for Sick Children, Glasgow, Scotland.
Summary
18p- syndrome, a genetic disorder from chromosome 18 deletions, presents with distinct facial features and developmental challenges. Dental anomalies, including a single central incisor and high caries risk, require specialized treatment.
Area of Science:
- Genetics
- Clinical Medicine
- Pediatrics
Background:
- 18p- syndrome is a chromosomal disorder resulting from the deletion of genetic material on the short arm of chromosome 18.
- First identified in 1963, the syndrome encompasses a spectrum of clinical manifestations.
- Genetic deletions on chromosome 18p can lead to diverse health issues.
Observation:
- The described patient exhibited learning difficulties and epilepsy.
- Distinct facial characteristics included a round face and an anti-mongoloid slant to the eyes.
- Oral examination revealed a single maxillary central incisor and a high susceptibility to cavities.
Findings:
- The patient's learning difficulties and epilepsy are consistent with known 18p- syndrome phenotypes.
- The characteristic facial features observed align with documented presentations of chromosome 18p deletions.
- Significant dental anomalies, including oligodontia (single incisor) and severe caries, were noted.
Implications:
- Early identification of 18p- syndrome is crucial for managing developmental and medical comorbidities.
- Comprehensive dental care, including treatment under general anesthesia, may be necessary for affected individuals.
- Understanding the genotype-phenotype correlations in 18p- syndrome aids in predicting and addressing specific patient needs.
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