Noushin Sorkhkoh Azari

Genetic Counseling Center of Allameh Amini, State Welfare Organization of Tabriz, Iran

Publications

• Case Reports   
  First Case Report of Costello Syndrome in the Azeri Turkish Population
  Author(s): Leila Vahedi, Noushin Sorkhkoh Azari, Mohsen Moradi, Jalal Gharesouran* and Maryam Rezazadeh*
  
  Background: Costello syndrome as a complex multi organ system anomalies caused by heterozygous de novo missense mutations in the proto oncogene HRAS which its product involved in controlling cell division and growth. Typical features that characterize this phenotype include distinctive coarse facial features, craniofacial anomalies, macrocephaly, low body mass gain, delayed development, short stature, skeletal and cardiac abnormalities with tumor predisposition, especially rhabdomyosarcoma. Aim: We here report one pediatric patients with Costello syndrome and umbilical ligament rhabdomyosarcoma. In this article, we report a case study of an 8-year-old boy born of a non-consanguineous marriage and presenting with mental retardation and delayed development. Physical examination revealed loss of speech, repetitive hand wringi.. Read More»