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[Poland syndrome (a case report)].

Omer Deniz1, Ergun Tozkoparan, Seyfettin Gümüş

  • 1Department of Chest Diseases, GATA, Ankara, Turkey. odeniz@gata.edu.tr

Tuberkuloz Ve Toraks
|November 1, 2005
PubMed
Summary

Poland syndrome, a rare condition causing chest muscle absence, was studied in a 20-year-old patient. This case highlights associated hand and shoulder anomalies, and reduced respiratory strength.

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Area of Science:

  • Medicine
  • Genetics
  • Orthopedics

Background:

  • Poland syndrome is a congenital condition characterized by the unilateral absence of the pectoralis major muscle.
  • It affects approximately 1 in 30,000 live births, with varying degrees of severity.
  • Associated anomalies, particularly limb malformations, can occur.

Observation:

  • A 20-year-old patient with Poland syndrome presented with unilateral pectoralis muscle absence.
  • Associated anomalies included brachydactyly (shortness of fingers) and syndactyly (webbing) of the second and third fingers on the affected side.
  • No other significant congenital anomalies were noted in this case.

Findings:

  • Quantitative muscle strength assessment revealed reduced strength in shoulder abduction and adduction using a Cybex dynamometer.

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  • Pulmonary function tests indicated decreased predicted maximal inspiratory and expiratory pressures, suggesting respiratory muscle weakness.
  • The specific pattern of hand and shoulder involvement, alongside respiratory compromise, provides detailed clinical insights.

    • Implications:

    • This case underscores the variability of Poland syndrome presentation, emphasizing the importance of thorough clinical examination for associated anomalies.
    • The findings highlight potential functional impairments, including motor deficits and reduced respiratory capacity, which may require targeted interventions.
    • Further research into the functional consequences and management strategies for Poland syndrome is warranted to improve patient outcomes.