Jovana Ječmenica1, Aleksandra Bajec-Opančina, Dragan Ječmenica. 1. Unit of Audiology and Neurootology, Institute for Mother and Child Health Care of Serbia "Dr Vukan Čupić", Radoja Dakica 8-12 Street, Belgrade, 11000, Serbia, jovanajec@gmail.com.
Abstract
INTRODUCTION: Three out of 1000 newborns are affected by a hearing loss, one of these being profound congenital deafness, whereas in the population of children treated in the intensive care unit, the incidence is 1:50. The purpose of this paper is to show in which genetic diseases and syndromes that hearing impairment can occur. DISCUSSION: A large number of pathological conditions, (genetic, infectious, and metabolic) can manifest themselves in a conductive or sensorineural hearing loss. Nonsyndromic autosomal recessive hearing loss is found in 56 % of cases, syndromic recessive in 30 %, nonsyndromic autosomal dominant in 12 %, and nonsyndromic related to the X chromosome and mitochondrial in 2 % of the cases. CONCLUSION: To make a diagnosis, the knowledge of clinical features of genetic syndromes is of paramount importance. Complete evaluation includes pediatric examination, bone and soft tissue radiological visualization, i.e., computed tomography and nuclear magnetic resonance, and finally genetic tests in cases where a hereditary disorder is suspected or identified.
INTRODUCTION: Three out of 1000 newborns are affected by a hearing loss, one of these being profound congenital deafness, whereas in the population of children treated in the intensive care unit, the incidence is 1:50. The purpose of this paper is to show in which genetic diseases and syndromes that hearing impairment can occur. DISCUSSION: A large number of pathological conditions, (genetic, infectious, and metabolic) can manifest themselves in a conductive or sensorineural hearing loss. Nonsyndromic autosomal recessive hearing loss is found in 56 % of cases, syndromic recessive in 30 %, nonsyndromic autosomal dominant in 12 %, and nonsyndromic related to the X chromosome and mitochondrial in 2 % of the cases. CONCLUSION: To make a diagnosis, the knowledge of clinical features of genetic syndromes is of paramount importance. Complete evaluation includes pediatric examination, bone and soft tissue radiological visualization, i.e., computed tomography and nuclear magnetic resonance, and finally genetic tests in cases where a hereditary disorder is suspected or identified.
Authors: F J del Castillo; M Rodríguez-Ballesteros; A Alvarez; T Hutchin; E Leonardi; C A de Oliveira; H Azaiez; Z Brownstein; M R Avenarius; S Marlin; A Pandya; H Shahin; K R Siemering; D Weil; W Wuyts; L A Aguirre; Y Martín; M A Moreno-Pelayo; M Villamar; K B Avraham; H-H M Dahl; M Kanaan; W E Nance; C Petit; R J H Smith; G Van Camp; E L Sartorato; A Murgia; F Moreno; I del Castillo Journal: J Med Genet Date: 2005-07 Impact factor: 6.318
Authors: Edmond Wonkam Tingang; Jean Jacques Noubiap; Jean Valentin F Fokouo; Oluwafemi Gabriel Oluwole; Séraphin Nguefack; Emile R Chimusa; Ambroise Wonkam Journal: Genes (Basel) Date: 2020-02-22 Impact factor: 4.141