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Cornelia de lange syndrome

Naeimeh Tayebi1

  • 1Medical Doctor-Genetic Counselor, Genetic Research Center-Shahid Fiazbakhsh Rehabilitation Comprehensive Center-Yazd Welfare organization.

Indian Journal of Human Genetics
|March 20, 2010
PubMed

Insights

This report details the first documented case of Cornelia de Lange syndrome (CDLS) in Iran. The infant presented with multiple congenital anomalies consistent with CDLS diagnosis.

Area of Science:

  • Genetics and rare diseases
  • Pediatric congenital anomalies
  • Syndrome research

Background:

  • Cornelia de Lange syndrome (CDLS) is a rare genetic disorder.
  • Characterized by distinctive facial features, developmental delay, and congenital anomalies.
  • CDLS affects multiple organ systems, presenting significant clinical challenges.

Observation:

  • A 15-week-old male infant from Iran was referred for evaluation of multiple congenital anomalies.
  • Clinical investigations confirmed the diagnosis of Cornelia de Lange syndrome (CDLS).
  • This case represents a significant finding within the Iranian pediatric population.

Findings:

  • The infant exhibited clinical features aligning with the diagnostic criteria for CDLS.
  • This case highlights the phenotypic variability and diagnostic considerations for CDLS.
  • The diagnosis was established through clinical assessment.

Implications:

  • This case report establishes the first documented instance of CDLS in Iran.
  • Increases awareness of CDLS in the region and aids in early diagnosis.
  • Contributes to the global understanding of CDLS prevalence and presentation.
Abstract

Keywords:
Cornelia de lange syndromeSynophrysdistinctive facial featureslong philtrummalformation of upper limbs

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