J Korean Dysphagia Soc.  2012 Jul;2(2):73-75.

Emanuel Syndrome Showing Dysphagia

• Son Ds
• Hwang Ch

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.

Keyword

Emanuel; Supernumerary der(22)t(11; 22); Chromosome 22