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Acrocallosal syndrome.

B J Shilpa1, L Ashok, P A Sattur

  • 1Department of Oral Medicine and Radiology, Bapuji Dental College and Hospital, Davanagere - 577 004, Karnataka, India.

Journal of the Indian Society of Pedodontics and Preventive Dentistry
|April 4, 2006
PubMed
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Acrocallosal syndrome, a rare genetic disorder, presents with craniofacial abnormalities, digital malformations, and intellectual disability. This case highlights the typical manifestations in an 8-year-old boy.

Area of Science:

  • Medical Genetics
  • Pediatric Neurology
  • Clinical Dysmorphology

Background:

  • Acrocallosal syndrome is a rare genetic disorder characterized by a specific constellation of congenital anomalies.
  • Understanding its genetic basis and clinical spectrum is crucial for diagnosis and management.

Observation:

  • This report details a case of an 8-year-old boy exhibiting classic clinical features of Acrocallosal syndrome.
  • The patient presented with significant craniofacial abnormalities and distinctive digital malformations.

Findings:

  • The observed clinical manifestations align with the established diagnostic criteria for Acrocallosal syndrome.
  • Intellectual disability was a notable feature, consistent with the syndrome's known impact on cognitive development.

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Implications:

  • This case underscores the importance of recognizing the characteristic features for early diagnosis of Acrocallosal syndrome.
  • Further research into the nosologic aspects can improve patient counseling and therapeutic strategies.