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Dissection, MicroCT Scanning and Morphometric Analyses of the Baculum
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Pectus excavatum and carinatum.

Jan M Cobben1, Roelof-Jan Oostra2, Fleur S van Dijk3

  • 1Department of Pediatrics, AMC University Hospital, Amsterdam, The Netherlands; Department of Clinical Genetics, AMC University Hospital, Amsterdam, The Netherlands.

European Journal of Medical Genetics
|May 14, 2014
PubMed
Summary

Pectus excavatum and carinatum are common chest wall issues with unknown causes. Genetic evaluation is usually only needed if other symptoms suggest a syndrome like Marfan or Noonan syndrome.

Keywords:
Pectus carinatumPectus excavatum

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Thoracic Surgery

Background:

  • Pectus excavatum and pectus carinatum are the most prevalent chest wall deformities.
  • The exact pathogenesis of these conditions remains largely unknown, with various hypotheses proposed.
  • Genetic evaluation is often prompted by the need to rule out underlying syndromal or connective tissue disorders.

Purpose of the Study:

  • To outline the diagnostic approach for chest wall abnormalities, specifically pectus excavatum and carinatum.
  • To determine the indications for genetic evaluation in patients with these conditions.
  • To review associated genetic syndromes and inheritance patterns.

Main Methods:

  • Detailed patient history and family history collection.
  • Comprehensive dysmorphological physical examination.
  • Review of literature regarding genetic causes and associated syndromes.

Main Results:

  • Isolated pectus excavatum/carinatum without syndromic features typically does not require further genetic studies.
  • Familial cases may suggest Mendelian or multifactorial inheritance, though specific genetic causes for isolated forms are not yet identified.
  • Pectus excavatum/carinatum can be manifestations of various syndromes, notably Marfan Syndrome and Noonan Syndrome.

Conclusions:

  • Genetic evaluation for pectus deformities should be guided by the presence of additional clinical features suggestive of a broader syndrome.
  • While isolated cases are common, the recurrence risk for non-familial isolated pectus excavatum/carinatum is considered low.
  • Recognition of associated syndromic conditions is crucial for appropriate patient management and genetic counseling.