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Cavernoma
Heather Borders, MD
over 7 years ago
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Craniofacial Dysraphism

Case Detail

Anatomy: Neck-Face
Junewick
Joseph Junewick, MD FACR
Diagnostic Category:
Created: over 7 years ago
Updated: over 7 years ago
Tags: PEDS
Modality/Study Types: MR CT 3D
Activities:
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History

Newborn male with midface anomalies.


Case Images


Diagnosis

Nasofrontal dysplasia with intracranial lipoma.

Clinical Notes

Hypertelorism, wideset and notched nares, narrow palpebral fissures and soft tissue prominence in the glabellar region.

Findings

CT – Axial with 3D volume rendered reformats demonstrate extensive midline craniofacial disorganization with osseous deficiency involving the maxilla, nasal bones, cribiform plates and frontal bones and confirms clinical deformities of hypertelorism and primitive proboscis.

MR – Midline subfrontal lipoma with no overt midline malformation (normal pituitary gland and intact corpus callosum and septum pellucidum) or cerebral dysgenesis.

Discussion

Development of the midface (upper lip to forehead) occurs between the 4th and 8th post-ovulation week but the embryogenesis of craniofacial syndromes is poorly understood. Occurence of craniofacial syndromes is sporadic. Concurrent malformations of the brain are relatively common and largely determine longterm outcome. Several named craniofacial syndromes exist including Apert, Crouzon, Pfeiffer, Treacher-Collins, Roberts, Coffin-Lowry, Saethre-Chotzen, Noack, Jackson-Weiss, Carpenter, and Lowry.

Reference

Lowe LH, Booth TN, Joglar JM, Rollins NK. Midface anomalies in Children. Radiographics 2000; 20:907-922.



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