Association between pectus excavatum and congenital genetic disorders: A systematic review and practical guide for the treating physician

BackgroundPectus excavatum (PE) could be part of a genetic disorder, which then has implications regarding comorbidity, the surgical correction PE, and reproductive choices. However, referral patient presenting with PE for analysis is often delayed because additional crucial clinical signs may subtle or even missed in syndromic patients. We reviewed literature to inventory known disorders associated create standardized protocol evaluation.MethodsA systematic search was performed electronic databases. Genetic were considered if studies reported at least five cases PE. Characteristics each disorder extracted from OMIM database order practical guide clinician.ResultsAfter removal duplicates initial search, 1632 citations remained. Eventually, we included 119 full text articles, representing 20 different disorders. Relevant characteristics important summarized providing form scoring list. The most sign positive family history and/or congenital heart defect.ConclusionsTwenty unique have been found created list clinician that systematically evaluates signs, thereby facilitating decision making geneticist.