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Updated: Jul 11, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Cornelia de Lange syndrome: a case report.

Joaquim Grau Carbó1, Julian López Jiménez, Maria José Giménez Prats

  • 1Consell de Cent, 284 Entl., 08007 Barcelona, Spain. joaquimgrau@eresmas.com

Medicina Oral, Patologia Oral Y Cirugia Bucal
|October 3, 2007
PubMed
Summary

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder with unclear genetic origins, affecting growth and development. Dental issues are common in CdLS patients, requiring comprehensive management.

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Last Updated: Jul 11, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Area of Science:

  • Genetics
  • Pediatrics
  • Dentistry

Background:

  • Cornelia de Lange syndrome (CdLS) is a rare genetic disorder affecting 1 in 10,000 to 60,000 neonates.
  • The genetic underpinnings of CdLS remain incompletely understood.
  • Key features include growth and developmental delay, hirsutism, limb anomalies, and distinctive facial characteristics.

Observation:

  • Dental anomalies are prevalent in CdLS, encompassing ogival palate, micrognathia, malalignment, delayed teething, microdontia, periodontal disease, and dental erosion from gastric reflux.
  • A case study details a 29-year-old patient with CdLS exhibiting characteristic clinical features.
  • Intraoral examination revealed extensive caries, periodontal disease, retained primary teeth, and ectopic molars.

Findings:

  • The patient presented with significant dental pathology, including policaries, periodontal disease, persistent primary teeth, and ectopic molars.
  • Despite general health being acceptable without cardiac or respiratory issues, the patient displayed numerous dental problems.
  • Comprehensive dental treatment under general anesthesia was necessitated due to the patient's lack of collaboration.

Implications:

  • This case highlights the critical need for early and ongoing dental surveillance in individuals with CdLS.
  • Understanding the spectrum of dental issues in CdLS can guide preventative and therapeutic strategies.
  • Effective management of dental complications is crucial for improving the overall quality of life for CdLS patients.