Emanuel Syndrome: A Case Report
Journal Title: VIMS Health Science Journal - Year 2018, Vol 5, Issue 3
Abstract
Emanuel Syndrome or Supernumerary derivative (22) syndrome is one of the rare genomic syndromes. It is characterised by severe mental retardation, microcephaly, failure to thrive, ear anomalies, pre-auricular tags or sinus, cleft palate or high arch palate, micrognathia, renal anomalies, congenital cardiac defects and genital abnormalities in males . In 99 percent of the cases, one of the parents is a balanced carrier of a translocation between chromosome 11 and chromosome 22. We report the first known case, a male neonate, of supernumerary derivative (22) syndrome . He had a remarkable facial appearance which included, Microcephaly, prominent forehead with dilated veins, broad nasal bridge, prominent philtrum, unilateral right sided microtia and large pre-auricular skin tags and pit. He was also having a small penis (1.4 cm), but both testes were completely descended. Oral findings observed were high arched palate and micrognathia.
Authors and Affiliations
Dr. Santoshi Kankante, Dr. Ganesh Misal, Dr. Sunil Mhaske
Keywords
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