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Related Experiment Videos

Mild de Lange syndrome--does it exist?

M Baraitser1, A S Papavasiliou

  • 1Department of Clinical Genetics, Hospital for Sick Children, London, UK.

Clinical Dysmorphology
|April 1, 1993
PubMed
Summary

This study reports on microcephalic twins initially diagnosed with mild de Lange syndrome. Further evaluation revealed a primary deficit in expressive speech, suggesting a potentially unique developmental condition.

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Area of Science:

  • Genetics and developmental pediatrics, focusing on rare syndromes.

Background:

  • The de Lange syndrome is characterized by intellectual disability, limb anomalies, and distinctive facial features.
  • Mild presentations of de Lange syndrome are less well-defined, posing diagnostic challenges.

Observation:

  • A case study of identical twins with microcephaly and intellectual disability is presented.
  • Initial diagnosis considered mild de Lange syndrome due to synophrys (unibrow).

Findings:

  • Follow-up revealed a predominant deficit in expressive speech development in the twins.
  • The specific constellation of symptoms may not align with established de Lange syndrome criteria.

Implications:

  • The findings question the broad categorization of mild de Lange syndrome.
  • Further research is needed to identify and characterize potentially unique neurodevelopmental disorders.

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