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»
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Annals of Medical and Health Sciences Research received 20588 citations as per google scholar report