A Case Analysis of Turner's syndrome for Neonate

Abstract

Background: Turner 's syndrome (TS) is the only monosomic syndrome in humans with affected individuals who may survive.Methods: we reported an 8-day old female infant who was diagnosed as TS. Detailed information regarding as clinical features, diagnosis, management, and outcome are provided.Results: The main clinical features were legathy, purple face, weak cry and shortness of breath, other manifestations including edema in the back of the neck, dyspnea with obvious retractions, rales in both lungs, edema in lower legs, feet and joints without pitting, and poorly developed toe nails. Chromosomal analysis of peripheral blood shows a karyotype of 45, XO and thus the diagnosis in the newborn stage of life, concurrently suffering from lung infection and congenital heart disease.Conclusion: As a common chromosomal disorder, TS has the special clinical features, diagnosed according to the Chromosomal analysis of peripheral blood, and can be recognized at neonatal stage. If we can diagnose early, the prognosis of patients will be better. A full understanding of the prognosis of the disorder and effective communication with patients and their family are crucial to improve the life quality of TS sufferers.