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Apert syndrome: a case report.

Saba Khan1, Laxmikanth Chatra2, Prashanth Shenai3

  • 1Postgraduate Student, Department of Oral Medicine and Radiology Yenepoya Dental College, Yenepoya University, Deralakatte, Mangalore-575018, Karnataka, India,

International Journal of Clinical Pediatric Dentistry
|September 11, 2014
PubMed
Summary
This summary is machine-generated.

Apert syndrome, a rare congenital disorder, involves craniosynostosis and syndactyly. This case report details a 10-month-old infant exhibiting classical Apert syndrome features.

Keywords:
AcrocephalosyndactyliaApert’sCraniosynostosisMidface hypoplasiaSymmetricSyndactyly

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Area of Science:

  • Medical Genetics
  • Pediatric Dentistry
  • Congenital Disorders

Background:

  • Apert syndrome (acrocephalosyndactyly) is a rare genetic disorder.
  • It is characterized by premature fusion of skull bones (craniosynostosis), midfacial hypoplasia, and fusion of fingers and toes (syndactyly).

Observation:

  • This report presents a case of a 10-month-old infant.
  • The infant presented with all the characteristic clinical features of Apert syndrome.

Findings:

  • The infant displayed classical manifestations of Apert syndrome, including craniosynostosis and syndactyly.
  • Diagnosis was confirmed through clinical observation of the characteristic features.

Implications:

  • This case highlights the importance of recognizing the clinical features of Apert syndrome in infants.
  • Early diagnosis and management are crucial for addressing the complex craniofacial and limb abnormalities associated with this condition.