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Apert syndrome.

¹, V P Kannan,

¹Department of Pedodontics, GDC, Calicut, India. speakprema@ymail.com

Journal of the Indian Society of Pedodontics and Preventive Dentistry

|January 29, 2011

Summary

This summary is machine-generated.

Apert syndrome, a rare craniosynostosis disorder, presents with distinctive craniofacial and limb abnormalities. This case highlights key features in an infant, emphasizing syndactyly and oral manifestations.

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Area of Science:

Medical Genetics
Developmental Biology
Pediatric Dentistry

Background:

Apert syndrome (acrocephalosyndactyly) is a rare genetic disorder.
It is characterized by craniosynostosis and syndactyly.
Early craniosynostosis of coronal and sagittal sutures contributes to craniofacial appearance.

Observation:

A case of Apert syndrome in an 18-month-old male is presented.
Craniofacial features included brachycephaly, midface hypoplasia, hypertelorism, and ocular proptosis.
Symmetrical syndactyly of hands and feet, along with intraoral findings like delayed tooth eruption and a high arched palate, were observed.

Findings:

The patient exhibited typical Apert syndrome characteristics.
Specific craniofacial deformities and osseous fusion of digits were noted.
Oral examination revealed delayed dental development and a pseudo cleft palate.

Implications:

This case underscores the importance of recognizing syndromic craniosynostosis.
Early diagnosis and management are crucial for addressing craniofacial and oral anomalies.
Further research into Apert syndrome's developmental pathways can inform therapeutic strategies.