Etiology of chest wall deformities--a genetic review for the treating physician.
Chest wall deformities such as pectus excavatum, pectus carinatum, and cleft sternum can be isolated malformations or dysmorphic features of genetic associations, monogenic disorders, and various numeric and structural chromosomal aberrations. In contrast to the most important syndromes such as Marfan syndrome or Noonan syndrome that can be associated with a chest wall deformity and for which the causative genes are known, etiology of isolated chest wall deformities is still a matter of research. Therefore, an interdisciplinary approach, particularly in patients with additional symptoms is strongly recommended to choose the best therapeutic approach for each patient and its family.
Kotzot
Dieter
D
Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, A-6020 Innsbruck, Austria. dieterkotzot@gmx.de
Schwabegger
Anton H
AH
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D005260:Female; D005660:Funnel Chest / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis / Q000235:genetics*; D009634:Noonan Syndrome / Q000235:genetics; D013249:Sternum / Q000002:abnormalities; D013577:Syndrome; D035441:Thoracic Wall / Q000002:abnormalities*