연하장애를 보이는 엠마누엘 증후군
Emanuel Syndrome Showing Dysphagia
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Emanuel syndrome is known for chromosomal disorder, characterized by the multiple congenital anomalies and developmental disabilities. It is abnormality of chromosome 22 and associated with microcephaly, preauricular sinus or tag, renal anomaly, renal agenesis, cardiac defect, imperforated anus, and diaphragm hernia. We present the case of 5-months-old female born with atrial septal defect and cleft palate. She was finally diagnosed with Emanuel syndrome after the chromosomal analysis. On 4 months, she got aspiration pneumonia and velo-pharyngeal insufficiency & impaired glottic closure was noticed on videofluoroscopic swallowing study, and tube feeding starts. Those abnormalities had been noticed over the serial study. However, she could start and maintain oral feeding with a aid of compensatory methods like a chin tuck and food thickener at 8 months. This is the first case reporting Emanuel syndrome in the rehabilitational field. (JKDS 2012;2:73-75)
Abstract
Emanuel syndrome is known for chromosomal disorder, characterized by the multiple congenital anomalies and developmental disabilities. It is abnormality of chromosome 22 and associated with microcephaly, preauricular sinus or tag, renal anomaly, renal agenesis, cardiac defect, imperforated anus, and diaphragm hernia. We present the case of 5-months-old female born with atrial septal defect and cleft palate. She was finally diagnosed with Emanuel syndrome after the chromosomal analysis. On 4 months, she got aspiration pneumonia and velo-pharyngeal insufficiency & impaired glottic closure was noticed on videofluoroscopic swallowing study, and tube feeding starts. Those abnormalities had been noticed over the serial study. However, she could start and maintain oral feeding with a aid of compensatory methods like a chin tuck and food thickener at 8 months. This is the first case reporting Emanuel syndrome in the rehabilitational field. (JKDS 2012;2:73-75)
참고문헌 (7)
- Lin AE, "Congenital heart disease in supernumerary der(22),t(11;22) syndrome", Clin Genet, 29, pp.269~275 (1986)
- Carter MT, "Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): clinical features of 63 individuals", Am J Med Genet A, 149A, pp.1712~1721 (2009)
- Gremeau AS, "Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome", Prenat Diagn, 29, pp.816~818 (2009)
- Hou JW, "Supernumerary chromosome marker Der(22)t(11;22)resulting from a maternal balanced translocation", Chang Gung Med J, 26, pp.48~52 (2003)
- Carter MT, "Risk of breast cancer not increased in translocation 11;22 carriers: analysis of 80 pedigrees", Am J Med Genet A, 152A, pp.212~214 (2010)
- Zackai EH, "Site-specific reciprocal translocation, t(11;22)(q23;q11), in several unrelated families with 3:1meiotic disjunction", Am J Med Genet, 7, pp.507~521 (1980)
- Yosunkaya Fenerci E, "Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel features", Genet Couns, 18, pp.401~408 (2007)