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Apert's syndrome: A rare craniofacial disorder
Prajakta C Khelkar1, Aaditi N Kadam1, Freny R Karjodkar1
1Department of Oral Medicine and Radiology, Nair Hospital Dental College, Mumbai, Maharashtra, India.
Summary
Apert syndrome (AS), a rare craniosynostosis disorder, presents distinct craniofacial features. This case highlights typical symptoms in a 13-year-old Indian boy, aiding in understanding AS presentation.
Area of Science:
- Genetics and Developmental Biology
- Pediatric Medicine
- Craniofacial Surgery
Background:
- Apert syndrome (AS) is a rare genetic disorder characterized by premature fusion of skull bones (craniosynostosis).
- It falls under the acrocephalosyndactyly group, affecting skull, facial, and limb development.
- Early diagnosis and management are crucial for improving patient outcomes.
Observation:
- A 13-year-old boy in India presented with classic Apert syndrome features.
- Observed characteristics included exophthalmos, hypertelorism, strabismus, a steep forehead, and midface hypoplasia.
- Distinctive facial traits like a parrot beak nose, depressed nasal bridge, and retruded midface were noted.
Findings:
- The case confirms the typical craniofacial manifestations of Apert syndrome.
- Syndactyly (fusion of fingers and toes) is a hallmark but was not the focus of this report.
- Detailed documentation of facial anomalies aids in differential diagnosis and surgical planning.
Implications:
- Highlights the importance of recognizing specific craniofacial patterns for accurate Apert syndrome diagnosis.
- Informs surgical strategies for correcting craniosynostosis and midface hypoplasia.
- Contributes to the understanding of Apert syndrome's phenotypic variability in diverse populations.
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