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Diagnosing acrocallosal syndrome.

Ashutosh Gupta1, Seema Thakur, Shubha R Phadke

  • 1Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

Indian Journal of Pediatrics
|March 29, 2003
PubMed
Summary
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A 3-month-old boy showed classic signs of acrocallosal syndrome. His presentation met established diagnostic criteria for this rare genetic disorder.

Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Acrocallosal syndrome is a rare genetic disorder characterized by agenesis or hypoplasia of the corpus callosum and polysyndactyly.
  • Early diagnosis is crucial for appropriate management and genetic counseling.

Observation:

  • A 3-month-old male infant presented with a constellation of clinical features consistent with acrocallosal syndrome.
  • The patient exhibited typical physical manifestations associated with the syndrome.

Findings:

  • The infant's clinical presentation fulfilled Courten's diagnostic criteria for acrocallosal syndrome.
  • This case highlights the characteristic phenotypic expression of acrocallosal syndrome in infancy.

Implications:

Related Experiment Videos

  • This case reinforces the diagnostic utility of established criteria for acrocallosal syndrome.
  • Understanding the typical presentation aids in the early identification and management of affected individuals.
  • Further research into the genetic underpinnings and long-term outcomes of acrocallosal syndrome is warranted.