Facial Mass
Roya Sohaey, MD
DIFFERENTIAL DIAGNOSIS
Common
Premaxillary Protrusion
Cleft Lip, Palate
Proboscis
Less Common
Epignathus
Frontal Encephalocele
Rare but Important
Preauricular Tags
Orbital Tumors
ESSENTIAL INFORMATION
Key Differential Diagnosis Issues
Routine views of fetal face
Profile
Nasal bone assessment
Rule out micrognathia
Orbit
Axial and coronal views
Note distance between eyes
Nose and lip assessment
Coronal soft tissue view
3D ultrasound technique
Acquisition best from profile view
Need fluid in front of face
Soft tissue rendered views
Assess eyes, nose and lips on one image
Bone rendered views
Bony palate
Sutures
4D ultrasound
3D in real time = 4D
Static 3D has better resolution
MR
Better delineation of extension of masses
Best for associated subtle brain anomalies
Helpful Clues for Common Diagnoses
Premaxillary Protrusion
From bilateral cleft lip, palate
Bilateral cleft palate leaves midline “island” of dysplastic maxillary tissue
Axial palate view shows defects best
Profile view shows mass-like structure
3D shows mass under nose
May be seen with unilateral cleft lip/palate
Large cleft palate defect
Alveolar ridge anteriorly displaced
Palate protuberance on profile view
3D shows morphology best
Cleft lip, palate (CL/CP) classification
Type 1: Unilateral CL only
Type 2: Unilateral CL/CP
Type 3: Bilateral CL/CP
Type 4: Midline CL/CP
Proboscis
Tube-like soft tissue midface structure
Proboscis instead of normal nose
Superior to eyes or between eyes
May lie flush with forehead
Orbit anomalies with proboscis
Cyclopia
Hypotelorism
Holoprosencephaly association
Alobar
Semilobar
Aneuploidy
Trisomy 13 most common
Trisomy 18
Helpful Clues for Less Common Diagnoses
Epignathus
Teratoma
Arises from oral or nasal cavity
Calcification in 50% (diagnostic)
Large, fungating oral mass
Fills oral cavity then emanates from mouth and/or nose
Can have intracranial extension
Transsphenoidal extension
Extra-axial mass
Polyhydramnios from impaired swallowing
MR
Helpful in determining extent of mass
Can identify fat within lesion
Frontal Encephalocele
Skull defect in frontoethmoidal region with herniation of intracranial structures
Skin-covered
Nasofrontal
Between frontal and nasal bones
Nasoethmoidal
Between nasal bones and nasal cartilage
Nasoorbital
Through medial orbital defect
Associated with other midline anomalies
Hypertelorism
Corpus callosum anomalies
Heterotopia
Interhemispheric lipoma
Most common in Southeast Asia
1:1,000
Better prognosis than occipital or parietal encephaloceles
Helpful Clues for Rare Diagnoses
Preauricular Tags
Supernumerary ear parts
Duplication of embryologic components
Skin “tags” with variable differentiation
Found at embryologic junctions
Preauricular tag
Anterior to ear
Looks like a cheek mass
Associated with other facial and ear anomalies
Micrognathia most common
Orbital Tumors
Group of rare tumors
Retinoblastoma
Teratoma
Rhabdomyosarcoma
Rhabdoid tumor
NeurofibromaStay updated, free articles. Join our Telegram channel
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