Presentation
Craniofacial dysmorphism.
Patient Data
Age: Neonate
Gender: Female
From the case:
Pfeiffer syndrome
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The CT demonstrates:
- severe craniosynostose (premature closure of the cranial sutures) with abnormal calvarial shape giving a "cloverleaf skull" appearance
- Shallow orbits with exophtalmos
- bony spiculations between the cerebral sulci
- Mid facial hypoplasia especially maxillary bone
- small posterior fossa with cerebellar tonsillar herniation
- hydrocephalus with asymmetrical dilatation of the temporal horns
- absence of the septum pellucidum
Case Discussion
The differential includes other forms of acrocephalosyndactyly and acrocephalopolysyndactyly:
Additional contributor: ZE. Boudiaf, MD, CHU, Constantine, Algeria
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