Investigation of clinical and genetic data of pectus excavatum in dysmorphological children: a single-center experience

Abstract

Background: Pectus excavatum (PE) is one of the most common chest wall deformations. However, the pathogenesis of the disease is not completely understood and the results of the researches remain inconsistent. There are not enough studies in the literature investigating the most common anomalies accompanying PE. Thus, in this study, we aimed to evaluate the prenatal, natal, postnatal, genetic and clinical findings associated with congenital PE. Materials and Methods: Eighteen patients with PE (10 males, 8 females) who admits Afyonkarahisar Health Sciences University were included in the study between 2012 and 2018. Patients were investigated clinically, radiologically and genetically to determine the etiology and risk factors of PE. PE is accompanied by several anomalies and has many systemic effects. The ages of the study patients who applied to the dysmorphology clinic and included in the study ranged between 0 and 18. The findings and genetic results of approximately 120 piece dysmorphological parameters of prenatal, natal and postnatal periods of PE patients were investigated. Results: Five parameters associated with PE were recorded in this study, which include intrauterine growth retardation (IUGR), high Beighton score, hypotonia, cryptorchidism and microcephaly. Conclusions: Treatment of PE requires a detailed and multidisciplinary approach.