Neuroimaging findings in Emanuel Syndrome.
J Radiol Case Rep
; 13(10): 1-5, 2019 Oct.
Article
in En
| MEDLINE
| ID: mdl-32184920
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cleft Palate
/
Chromosome Disorders
/
Heart Defects, Congenital
/
Intellectual Disability
/
Microcephaly
/
Muscle Hypotonia
Type of study:
Diagnostic_studies
Aspects:
Patient_preference
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
J Radiol Case Rep
Year:
2019
Document type:
Article
Affiliation country:
United States