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Electroporation of Craniofacial Mesenchyme
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Severe Craniofacial Involvement due to Amniotic Band Sequence.

Luis Eduardo Becerra-Solano1,2, Gema Castañeda-Cisneros3, Jorge Roman Corona-Rivera4

  • 1a Instituto Mexicano del Seguro Social, Medical Research Unit , Gaudalajara , Mexico.

Fetal and Pediatric Pathology
|January 17, 2018
PubMed
Summary

Disruptive amniotic band sequence (DABS) can cause severe craniofacial deformities, even without limb abnormalities. Early recognition of linear craniofacial scarring is key for diagnosis.

Keywords:
Amniotic band sequencedisruptive sequencefacial cleftslimb-body wall defects

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Teratology

Background:

  • Disruptive amniotic band sequence (DABS) is a sporadic, non-familial congenital disorder.
  • The etiology of DABS remains unclear, necessitating clinical diagnosis due to a lack of specific laboratory tests.

Observation:

  • This study details six cases of DABS presenting with severe craniofacial deformations.
  • Three of these cases exhibited classical constrictive limb deformities, while the other three did not.

Findings:

  • The observed craniofacial deformities were characterized by peripheral, sharply demarcated scarring.
  • This suggests that linear disruptive craniofacial lesions are a significant diagnostic indicator for DABS.

Implications:

  • DABS should be considered in cases of sharply demarcated linear craniofacial lesions, even in the absence of limb scarring.
  • This broadens the diagnostic criteria for DABS, aiding in earlier and more accurate identification.