Microcephaly - Rubinstein-Taybi syndrome

Case contributed by Assoc Prof Frank Gaillard


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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Case information

rID: 15816
Published: 13th Nov 2011
Last edited: 13th Aug 2019
Inclusion in quiz mode: Included

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