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Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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Marfan syndrome affecting a whole Sudanese family

Laila M Elmahdi1, Sulafa Km Ali1

  • 1Department of Pediatric Cardiology, Sudan Heart Centre, Khartoum, Sudan.

Sudanese Journal of Paediatrics
|August 6, 2016
PubMed

Insights

Marfan syndrome, a connective tissue disorder, was identified in a Sudanese father and his four children. This is the first reported family with Marfan syndrome in Sudan, highlighting the condition

Area of Science:

  • Genetics and human disease
  • Connective tissue disorders

Background:

  • Marfan syndrome (MS) is an autosomal dominant genetic disorder affecting fibrous connective tissue.
  • It exhibits significant pleiotropism and clinical variability, impacting skeletal, ocular, and cardiovascular systems.

Observation:

  • A Sudanese family presented with multiple affected members: the father and all four of his children.
  • All affected individuals manifested cardinal features of Marfan syndrome.

Findings:

  • This report documents the first known cases of Marfan syndrome diagnosed in Sudan.
  • The affected family showcases the typical multisystemic involvement characteristic of MS.

Implications:

  • This finding expands the known geographical distribution of Marfan syndrome.
  • It underscores the importance of recognizing and diagnosing Marfan syndrome in diverse populations, including Sudan.
Keywords:
EchocardiographyFibrillin-1 geneMarfan syndrome

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