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Disordered peripheral nerve conduction in DOOR(S) syndrome

W Reardon1, S Boyd, M C Pitt

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

Neuropediatrics
|February 1, 1994
PubMed
Summary
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This study details a case of DOOR(S) syndrome, highlighting neurophysiological abnormalities. It specifically focuses on previously unrecorded abnormal peripheral nerve conduction in this rare genetic disorder.

Area of Science:

  • Genetics
  • Neuroscience
  • Clinical Medicine

Background:

  • DOOR(S) syndrome is a rare autosomal recessive disorder.
  • It is characterized by distinct developmental abnormalities.
  • Neurophysiological findings in DOOR(S) syndrome are not well-documented.

Observation:

  • A specific case of DOOR(S) syndrome was investigated.
  • Neurophysiological assessments were conducted on the patient.
  • Existing literature on neurophysiological abnormalities in DOOR(S) syndrome was reviewed.

Findings:

  • The patient exhibited characteristic features of DOOR(S) syndrome.
  • Significant neurophysiological abnormalities were identified.
  • Abnormal peripheral nerve conduction was observed, a novel finding for this condition.

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Implications:

  • This research expands the understanding of DOOR(S) syndrome's clinical presentation.
  • It highlights the importance of neurophysiological testing in diagnosing and managing DOOR(S) syndrome.
  • The identification of abnormal peripheral nerve conduction may lead to new diagnostic or therapeutic strategies.