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Related Experiment Videos

Acrocallosal syndrome: additional manifestations.

A C Casamassima1, D Beneck, M H Gewitz

  • 1Department of Pediatrics, New York Medical College, Valhalla, New York.

American Journal of Medical Genetics
|March 1, 1989
PubMed
Summary
This summary is machine-generated.

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Acrocallosal syndrome (ACS) typically involves brain and limb abnormalities. This case suggests that severe heart and internal organ defects may also be part of ACS, expanding its known features.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Acrocallosal syndrome (ACS) is a rare genetic disorder.
  • It is characterized by macrocephaly, craniofacial abnormalities, limb malformations, and agenesis of the corpus callosum.
  • ACS is typically inherited in an autosomal recessive pattern.

Observation:

  • This report details a patient with features consistent with ACS.
  • The patient presented with additional severe congenital anomalies, including a significant heart defect and visceral malformations.
  • These findings prompted a comparison with other known genetic syndromes.

Findings:

  • The patient exhibited classic ACS features alongside complex internal organ abnormalities.
  • Differential diagnoses were considered and ruled out.

Related Experiment Videos

  • The visceral and cardiac malformations are proposed as potential manifestations of ACS.

    • Implications:

    • This case expands the phenotypic spectrum of Acrocallosal syndrome.
    • It highlights the importance of thorough evaluation for internal organ anomalies in suspected ACS patients.
    • Further research may clarify the genetic basis and full range of ACS manifestations.