Are there any case reports of a child with progressive facial asymmetry that was difficult to diagnose?

Progressive Facial Asymmetry in Children: Documented Case Reports

Yes, there are documented case reports of children with progressive facial asymmetry that presented diagnostic challenges, including rare conditions like zygomaticotemporal synostosis, hemimaxillofacial dysplasia (HATS syndrome), and hemifacial microsomia with atypical presentations.

Rare and Diagnostically Challenging Cases

Zygomaticotemporal Synostosis

• A case report describes an adolescent male with zygomaticotemporal synostosis presenting as progressive midfacial and orbital asymmetry, angulation of the cranial base, and nasal deviation 1
• This represented the first description of this anomaly in the literature, highlighting its rarity and diagnostic difficulty 1
• Premature closure of facial sutures is remarkably rare compared to cranial synostosis, making this particularly challenging to diagnose 1

HATS Syndrome (Hemimaxillofacial Dysplasia)

• A child was reported with hemimaxillary enlargement, asymmetry of the face, tooth abnormalities, and skin findings (HATS syndrome), which includes unilateral abnormalities of bone, teeth, gums, and skin 2
• The condition is generally recognized in childhood and may present with partial anodontia, abnormal tooth spacing, delayed eruption, and gingival thickening of the affected segment 2
• Cutaneous manifestations include facial asymmetry, Becker's nevus, lip hypopigmentation, discontinuity of the vermilion border, and cheek depression 2

Progressive Hemifacial Microsomia

• Serial observations documented three children with facial asymmetry followed annually using facial stereophotogrammetry, demonstrating varying patterns of progression 3
• One patient with post-traumatic condylar hypoplasia showed resolution of asymmetry, while another with unilateral facial hypoplasia showed severe asymmetry that reduced but did not resolve with adolescence 3
• A third patient with fibro-osseous dysplasia of the left maxilla showed asymmetry reduction after surgery, but full effects were not measurable until over 1 year post-operation, with subsequent recurrence 3

Why These Cases Are Diagnostically Difficult

Multiple Overlapping Presentations

• The American Academy of Pediatrics emphasizes that new progressive facial asymmetry in a child without trauma should be considered potentially serious and requires prompt evaluation, as it may be the first sign of an intracranial process requiring urgent attention 4, 5
• Facial asymmetry can result from congenital disorders, acquired diseases, traumatic injuries, and developmental deformities, with many cases of developmental facial asymmetry having indistinct causes 6

Progressive Nature Complicates Diagnosis

• Hemifacial microsomia demonstrates progressive asymmetry with growth, with angular measurements of piriform rim, maxillary occlusal plane, and intergonial angle increasing significantly from deciduous to permanent dentition 7
• In severe cases (mandible type IIb, III), the piriform rim angle increased from 9.5 to 11.7 degrees, maxillary occlusal plane from 6.2 to 7.6 degrees, and intergonial angle from 5.3 to 8.0 degrees 7

Mimicking Conditions

• Distinguishing between true anatomical asymmetry and functional asymmetry from compensatory posturing is crucial, as strabismus with compensatory head posture can mimic structural facial asymmetry 4, 5
• Incomplete or mild facial nerve dysfunction that becomes apparent only with voluntary facial movement can cause asymmetry only with smiling, potentially delaying diagnosis 4

Critical Diagnostic Approach for Difficult Cases

Immediate Imaging Requirements

• Obtain brain MRI with contrast as first-line imaging to evaluate for intracranial mass, tumor affecting facial nerve, or cerebrovascular pathology 4, 5
• The American College of Radiology rates MRI head with and without IV contrast as 8/9 (usually appropriate) and MRI orbit/face/neck with and without IV contrast as 9/9 (usually appropriate) for facial nerve disorders 4
• Order 3D-CT maxillofacial scan only after neurological causes are excluded to assess skeletal discrepancies and soft tissue deficiency 5

Essential Clinical Documentation

• Document exact onset timing and rate of progression, birth weight, gestational age, prenatal/perinatal history, and developmental milestones 5
• Perform complete facial nerve assessment using House-Brackmann scale, comprehensive ophthalmological assessment including visual acuity, binocular alignment, and fundoscopic examination 4, 5
• Complete cranial nerve assessment beyond just facial nerve, test motor and sensory function throughout, and evaluate cerebellar function 5

Pitfalls to Avoid

• Do not assume benign structural asymmetry without neuroimaging, even if asymmetry is only present with smiling 4, 5
• Do not delay evaluation based on the assumption that dynamic-only asymmetry is benign, as facial asymmetry may be the first sign of an intracranial process 4, 5
• Close monitoring of progression is essential, as conditions like hemifacial microsomia show increasing asymmetry with growth, and repeat imaging may be necessary if symptoms progress or change 4, 5, 7