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Emanuel syndrome is an inherited chromosomal disorder that can be clinically challenging to diagnose. Previously described neuroimaging findings include microcephaly, micrognathia, retrognathia, cleft palate, cerebral volume loss, and external auditory canal atresia. We describe a case of a patient who presented with all these classic findings. In addition, neuroimaging depicted dysplasia of the bilateral middle ear ossicles, to our knowledge a novel finding not previously described in the literature. Familiarity with these neuroimaging findings can contribute to earlier diagnosis and, potentially, improved outcomes for these patients and their families.






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Neuroimaging findings in Emanuel Syndrome

Free full text article: Neuroimaging findings in Emanuel Syndrome

Abstract
Emanuel syndrome is a rare inherited chromosomal abnormality caused by an unbalanced translocation of chromosomes 11 and 22. Clinically, Emanuel syndrome is characterized by a wide spectrum of congenital anomalies, dysmorphisms, and developmental disability often confused with other similar syndromes. Outside of genetic testing, diagnosis remains challenging and current literature on typical radiologic findings is limited. We present classic neuroimaging findings of Emanuel syndrome consistent with prior literature including microcephaly, microretrognathia, external auditory canal stenosis, and cleft palate; and also introduce the additional maxillofacial anomaly of dysplastic middle ear ossicles, to our knowledge not previously described in the literature. Recognition of findings leading to earlier diagnosis of Emanuel syndrome may improve outcomes and quality of life for patients and their families.






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1. Emanuel syndrome

2. Supernumerary der(22)t(11

3. 22) syndrome

4. Chromosome 11/22 translocation

5. Hearing loss

6. CT

7. Neuroimaging


This article belongs to the Pediatric section.


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