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Cornelia de-lange syndrome: a case report.

Diana Noshir Mehta1, Rupinder Bhatia2

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|September 11, 2014
PubMed
Summary

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder with distinctive facial features, growth issues, and limb abnormalities. Early dental intervention is crucial for managing oral health in affected children.

Keywords:
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Area of Science:

  • Genetics
  • Pediatrics
  • Dysmorphic Syndromes

Background:

  • Cornelia de Lange syndrome (CdLS) is a congenital disorder affecting multiple systems.
  • It presents with characteristic facial dysmorphism, growth retardation, and limb defects.
  • CdLS is an autosomal dominant disorder with a prevalence of 1 in 30,000–50,000 births.

Observation:

  • This article reports a classical case of CdLS in a 10-year-old boy.
  • The case highlights the syndrome's oral and systemic manifestations.
  • Key features included synophrys, arched eyebrows, hirsutism, and upper limb reduction defects.

Findings:

  • The patient exhibited typical CdLS craniofacial features and developmental delays.
  • Cognitive impairment ranged, with an average IQ of 53.
  • Autistic and self-destructive behaviors were noted.

Implications:

  • Pediatric dentists play a vital role in managing CdLS patients.
  • Preventive care, behavior management, and timely referrals are essential.
  • Comprehensive management requires a multidisciplinary approach involving medical specialists.