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Related Experiment Videos

Campomelic dysplasia without overt campomelia.

U Friedrich1, E Schaefer, P Meinecke

  • 1Cytogenetic Laboratory, Aarhus Psychiatric Hospital, Risskov, Denmark.

Clinical Dysmorphology
|July 1, 1992
PubMed
Summary

Campomelic dysplasia is a condition with variable limb deformities. However, underdeveloped scapulae are a consistent diagnostic sign, even without overt campomelia.

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Clinical genetics·2018

Area of Science:

  • Genetics
  • Pediatrics
  • Skeletal Dysplasias

Background:

  • Campomelic dysplasia (CD) is a rare genetic disorder.
  • Characterized by significant skeletal malformations, particularly affecting the long bones and spine.
  • Often associated with sex reversal in XY individuals.

Observation:

  • A newborn female presented with features consistent with campomelic dysplasia.
  • Notably, this infant lacked overt campomelia (bowed limbs).
  • This case aligns with previous reports of variable expressivity in CD.

Findings:

  • Campomelia is not a mandatory feature for diagnosing campomelic dysplasia.
  • Hypoplasia of the scapulae (underdeveloped shoulder blades) is a constant and diagnostically significant finding in CD.
  • Scapular hypoplasia serves as a reliable indicator for CD.

Implications:

  • Revises the diagnostic criteria for campomelic dysplasia.
  • Highlights the importance of scapular morphology in diagnosing CD, even in the absence of limb bowing.
  • Aids in earlier and more accurate diagnosis of campomelic dysplasia, facilitating timely genetic counseling and management.

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