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Related Experiment Videos

A second case of Devriendt syndrome.

Rainer Koenig1, Peter Meinecke, Sigrun Fuchs

  • 1Institute of Human Genetics, Johann Wolfgang Goethe University, Frankfurt Clinical Genetics Unit, Altona Children's Hospital, Hamburg.

Clinical Dysmorphology
|December 17, 2004
PubMed
Summary

This study describes a rare genetic disorder in a female patient featuring Robin sequence, short stature, and seizures. A unique second metacarpal segmentation was observed, adding to the understanding of this condition.

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Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Robin sequence is a congenital condition characterized by micrognathia, glossoptosis, and airway obstruction.
  • Developmental disorders can manifest with a range of physical and cognitive impairments.
  • Genetic factors play a significant role in the etiology of many congenital anomalies.

Observation:

  • A female patient presented with severe intellectual disability, Robin sequence, and short stature.
  • The patient also experienced seizures, indicating potential neurological involvement.
  • A distinctive characteristic segmentation of the second metacarpal was noted.

Findings:

  • This case represents a rare combination of Robin sequence, intellectual disability, short stature, seizures, and a specific metacarpal anomaly.

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  • The findings align with and expand upon previously reported cases of similar rare genetic syndromes.
  • The characteristic segmentation of the second metacarpal serves as a potential diagnostic marker.

    • Implications:

    • Further research into the genetic underpinnings of this rare condition is warranted.
    • Improved understanding may lead to earlier diagnosis and more targeted interventions for affected individuals.
    • This case highlights the importance of detailed physical examination in identifying rare genetic syndromes.