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Related Experiment Video

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Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
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Poland syndrome.

Chandra Madhur Sharma1, Shrawan Kumar2, Manoj K Meghwani3

  • 1Department of Pediatrics, Rama Medical College, Hospital and Research Centre, Kanpur, Uttar Pradesh, India.

Indian Journal of Human Genetics
|June 25, 2014
PubMed
Summary
This summary is machine-generated.

Poland syndrome is a rare congenital condition affecting muscle development. This report details the first documented case of Poland syndrome in Uttar Pradesh, India, in an 8-year-old boy.

Keywords:
Pectoralis majorPoland syndromesymbrachydactylysyndactyly

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Congenital Abnormalities

Background:

  • Poland syndrome is a rare congenital disorder.
  • It is characterized by the underdevelopment or absence of the pectoralis major muscle, specifically its sternal portion.
  • Associated musculoskeletal anomalies may also be present.

Observation:

  • This report presents a case of an 8-year-old boy.
  • The patient exhibited typical clinical features consistent with Poland syndrome.
  • This is the first documented case of Poland syndrome originating from Uttar Pradesh, India.

Findings:

  • The case confirms the occurrence of Poland syndrome in the Indian subcontinent.
  • The presentation was typical, involving characteristic muscle deficiency.
  • This highlights the need for broader awareness and diagnosis in diverse geographical regions.

Implications:

  • This case expands the known geographical distribution of Poland syndrome.
  • It underscores the importance of recognizing this rare condition in pediatric populations.
  • Further epidemiological studies may be warranted in India to understand its prevalence.