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Schinzel acrocallosal syndrome.

Sheffali Gulati1, Shaji Menon, Madhulika Kabra

  • 1Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Indian Journal of Pediatrics
|March 29, 2003
PubMed
Summary
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Acrocallosal syndrome (ACLS), a rare genetic disorder, presents at birth with distinctive features. This report details a case of ACLS in a 5-month-old Indian boy, highlighting its characteristics.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Case Reports

Background:

  • Acrocallosal syndrome (ACLS) is a rare genetic disorder characterized by agenesis of the corpus callosum, intellectual disability, craniofacial abnormalities, digital malformations, and growth retardation.
  • While autosomal recessive inheritance is suggested, ACLS often presents sporadically.
  • ACLS has not been previously reported in India.

Observation:

  • This report describes a 5-month-old male infant presenting with a constellation of symptoms consistent with Acrocallosal syndrome.
  • The patient exhibited typical features of ACLS, including developmental delays and characteristic physical anomalies.

Findings:

  • The case presentation confirms the presence of Acrocallosal syndrome in an Indian patient.

Related Experiment Videos

  • This finding expands the known geographical distribution of ACLS.

    • Implications:

    • This report contributes to the understanding of Acrocallosal syndrome's prevalence and clinical spectrum.
    • It underscores the importance of recognizing ACLS in infants with complex congenital anomalies, even in regions where it has not been previously documented.