Microcephaly - Rubinstein-Taybi syndrome

Case contributed by Frank Gaillard
Diagnosis certain


Scanned for head injury. Mental retardation from birth.

Patient Data

Age: 30 years
Gender: Male

CT brain


Non contrast CT of the brain and face demonstrates swelling over the left orbit without fracture. There is marked microcephaly with thickening of the skull. The nose is large, beaked with the a broad base. 

Case Discussion

This young man is known to have Rubinstein-Taybi syndrome accounting for the microcephaly and facial appearance. 

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