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Prevalence of smoking among school adolescents in Khartoum State.

Sudanese journal of paediatrics·2016
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Walker-Warburg Syndrome: A Case with multiple uncommon features.

Hibba A Bedri1, Babiker M Mustafa1, Yosif M Jadallah1

  • 1Department of Pediatrics , Al Ribat Teaching Hospital, Khartoum , Sudan .

Sudanese Journal of Paediatrics
|August 6, 2016
PubMed
Summary

Walker-Warburg syndrome (WWS) is a rare genetic disorder affecting muscle and brain development. This case highlights typical WWS features and emphasizes the need for comprehensive genetic and prenatal diagnostics.

Keywords:
Congenital muscular dystrophyGlycosylation of α-dystroglycanLissencephalyWalker-Warburg syndrome

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Area of Science:

  • Genetics
  • Neurology
  • Developmental Biology

Background:

  • Walker-Warburg syndrome (WWS) is a severe, inherited disorder impacting muscle and brain development.
  • It stems from defects in glycosylation, a process crucial for protein function, particularly of α-dystroglycan.

Observation:

  • The study details a patient with classic WWS manifestations.
  • Observed features included lissencephaly, congenital muscular dystrophy, ocular abnormalities, hydrocephalus, encephalocele, and cardiac defects.

Findings:

  • Mutations in genes like POMT1, POMT2, and LARGE are implicated in WWS.
  • This case underscores the complex phenotypic variability within WWS.

Implications:

  • Accurate genetic and prenatal diagnosis are vital for WWS management.
  • Further research into WWS pathogenesis can inform therapeutic strategies for related disorders.