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Rubinstein Taybi syndrome.

A Stalin1, Balagopal R Varma,

  • 1Department of Pedodontics and Preventive Dentistry, Ragas Dental College and Hospital, Chennai, India.

Journal of the Indian Society of Pedodontics and Preventive Dentistry
|August 8, 2006
PubMed
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Rubinstein Taybi syndrome (RTS) is a genetic disorder causing developmental delays and distinctive facial features. This case report details the dental management of a child with RTS, highlighting unique oral health challenges and treatment approaches.

Area of Science:

  • Medical Genetics
  • Pediatric Dentistry
  • Developmental Biology

Background:

  • Rubinstein Taybi syndrome (RTS), also known as Broad Thumb and Hallux syndrome, is a rare genetic disorder.
  • RTS is characterized by intellectual disability, distinctive facial features, and broad thumbs and toes.
  • Oral health complications are common in RTS patients, requiring specialized dental care.

Observation:

  • A 10-year-old boy presented with unaesthetic appearance due to extra teeth and delayed developmental milestones.
  • The patient exhibited hyperactivity, mental retardation, and characteristic facial dysmorphism (broad forehead, hypertelorism, broad nasal bridge, beaked nose).
  • Intraoral examination revealed talon cusps, a mesiodens, carious teeth, and plaque accumulation.

Findings:

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  • The patient displayed significant dental anomalies, including supernumerary teeth and malformed incisors (talon cusps).
  • Evidence of poor oral hygiene, including plaque accumulation and dental caries, was noted.
  • The patient's hyperactivity and mental retardation necessitated dental treatment under general anesthesia (GA).

    • Implications:

    • This case highlights the importance of comprehensive dental evaluation and management in children with Rubinstein Taybi syndrome.
    • Early diagnosis and tailored treatment plans are crucial for addressing the complex oral health needs of RTS patients.
    • Effective dental management, even under GA, can improve the quality of life and oral health outcomes for individuals with RTS.