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Fragile 'X' syndrome. A case study

S Mittal1, Y B Rawal

  • 1Department of Orthodontics, Bapuji Dental College, Davangere, India.

Indian Journal of Dental Research : Official Publication of Indian Society for Dental Research
|April 1, 1996
PubMed
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Fragile X syndrome, an X-linked disorder, presents with connective tissue issues and intellectual disability. This case report details a patient with the characteristic Martin-Bell syndrome phenotype, adding previously undocumented oral features.

Area of Science:

  • Genetics
  • Medical Case Reports
  • Syndromology

Background:

  • Fragile X syndrome, also known as Martin-Bell syndrome, is an X-linked genetic disorder.
  • It is characterized by connective tissue dysplasia and intellectual disability of varying severity.
  • Understanding its full clinical spectrum is crucial for diagnosis and management.

Observation:

  • This report presents a specific case of Fragile X syndrome.
  • The patient exhibited the characteristic Martin-Bell phenotype.
  • Unique oral features not previously documented in relation to this syndrome were observed.

Findings:

  • The case confirms the known clinical manifestations of Fragile X syndrome.
  • Novel oral findings associated with the Martin-Bell phenotype were identified.

Related Experiment Videos

  • This expands the recognized clinical and phenotypic spectrum of the disorder.

    • Implications:

    • The identification of new oral features can aid in earlier diagnosis of Fragile X syndrome.
    • This case contributes to a more comprehensive understanding of the syndrome's presentation.
    • Further research into these oral manifestations may reveal underlying genetic or developmental pathways.