Problemy diagnostyczno-terapeutyczne u noworodka z zespołem Turnera – opis przypadku

Abstract

Turner syndrome is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. The most prevalent karyotype is 45,X, followed by mosaic patterns. Turner syndrome is associated with several morbidities that increase with age. Turner syndrome causes typical dysmorphic features (webbed neck, lymphedema of the hands and feet, narrow and high-arched palate, low hairline at the back, low set ears, broad chest and wide set nipples) and several multisystem disorders: short stature, primary gonadal deficiency, kidney malformations. It has been reported that the 50% of adult patients and 30% of pediatric patients with Turner syndrome present with cardiovascular abnormalities. The authors present a case of a newborn with Turner syndrome, coarctation of aorta and bicuspid aortic valve. The child was operated on coarctation of aorta shortly after the diagnosis. The regular check-ups showed good surgical result.