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Apert's Syndrome.

Gudipaneni Ravi Kumar1, Mandapati Jyothsna2, Syed Basheer Ahmed3

  • 1Assistant Professor, Department of Pedodontics and Preventive Dentistry Government Dental College and Hospital, Rims, Kadapa Andhra Pradesh, India.

International Journal of Clinical Pediatric Dentistry
|September 11, 2014
PubMed
Summary

Apert's syndrome, a rare congenital disorder, presents with craniosynostosis and limb abnormalities. This case highlights the typical craniofacial and intraoral features of this condition.

Keywords:
AcrocephalosyndactylyCraniosynostosisMidface hypoplasiaPseudocleft palate

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Area of Science:

  • Genetics
  • Pediatric Dentistry
  • Craniofacial Surgery

Background:

  • Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder.
  • Characterized by craniosynostosis, midfacial malformation, and syndactyly of hands and feet.

Observation:

  • Craniofacial features include a cone-shaped calvarium, prominent forehead, proptosis, hypertelorism, and a short, bulbous nose.
  • Intraoral findings encompass a high arched palate with pseudocleft, maxillary hypoplasia, dental crowding, anterior open bite, and retained primary teeth.

Findings:

  • The case report details a 14-year-old boy exhibiting classical Apert's syndrome features.
  • Emphasis is placed on a review of the genetic underpinnings of the syndrome.

Implications:

  • Understanding the genetic basis of Apert's syndrome is crucial for diagnosis and management.
  • Comprehensive management involving craniofacial and dental interventions is essential for affected individuals.