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Related Experiment Videos

Acampomelic campomelic dysplasia.

R I Macpherson1, S A Skinner, A E Donnenfeld

  • 1Department of Radiology, Medical University of South Carolina, Charleston.

Pediatric Radiology
|January 1, 1989
PubMed
Summary

Two newborns with respiratory distress presented with features of campomelic dysplasia but lacked limb abnormalities. This suggests a variant presentation of this rare genetic disorder in infants.

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To the editor.

Journal of clinical monitoring and computing·2015

Area of Science:

  • Genetics
  • Pediatrics
  • Skeletal Dysplasias

Background:

  • Campomelic dysplasia is a rare, severe skeletal dysplasia characterized by significant limb shortening (campomelia).
  • It is typically caused by mutations in the SOX9 gene and associated with a range of congenital anomalies.

Observation:

  • Two newborn infants presented with severe respiratory distress.
  • Clinical and radiological examinations revealed features consistent with campomelic dysplasia, including specific facial characteristics and skeletal abnormalities.

Findings:

  • Neither infant exhibited the hallmark limb shortening (campomelia) typically seen in this condition.
  • This presentation represents an atypical or variant form of campomelic dysplasia.

Implications:

  • Highlights the phenotypic variability of campomelic dysplasia, emphasizing that campomelia is not always present.
  • Suggests the need for a broader diagnostic approach for campomelic dysplasia, considering cases without limb abnormalities.
  • Underscores the importance of genetic testing for SOX9 gene mutations in newborns with unexplained skeletal anomalies and respiratory distress.

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