Clinical Features

Anatomical Features

TCS is caused by the failure of migration of neural crest cells. Clinical manifestations of TCS reflects the hypoplasia of neural crest-derived branchial arch 1 and 2 cartilages, this in turn causes hypoplastic cranioskeletal defects.

Dental

Mandible and maxilla

Ear

Orbit

Zygoma

Cranioskeletal Structures Affected

These cranioskeletal defects will influence the normal development of the overlying tissues and structures

Functional Problems

In addition to the external defects, patients with TCS portray internal defects that will consequently lead to problems in breathing, feeding and speech.

Speech

Feeding

Breathing

Functional Problems

Ensure that patient can eat, hear, and speak

Radiographical Records

Radiographical findings can be interpreted by:

Computer tomography (CT scan)
Orthopantomogram
Occipital X-ray photograph

Structural deformity	Treacher-Collins syndrome	Normal
Zygomatic hypoplasia	3D CT scan showing missing zygomatic arch Radiographical features source 4	3D CT scan showing normal zygomatic arch Radiographical features source 8
Airway obstruction	2D CT scan showing blocked airway Radiographical features source 7	2D CT scan showing normal open airway Radiographical features source 7
Middle ear deformities	2D CT scan showing deformed middle ear structure Radiographical features source 8	2D CT scan showing normal middle ear structure
No auditory ossicles	2D CT scan showing missing auditory ossicles Radiographical features source 7	2D CT scan showing normal auditory ossicles Radiographical features source 7
Mandibular hypoplasia	Prenatal 3D\4D ultrasound showing underdeveloped mandible Radiographical features source 2	Prenatal 3D\4D ultrasound showing normal development of the mandible Radiographical features source 2
Mandibular hypoplasia	3D CT scan showing underdeveloped ramus and mandible Radiographical features source 8	3D CT scan showing normal mandibular and ramus development Radiographical features source 8
Fused vertebrae	2D CT scan showing fused 2nd and 3rd vertebrae Radiographical features source 9	2D CT scan showing normal vertebrae Radiographical features source 6
The findings between cases are typically similar with some difference in the severity.

Treacher-Collins Syndrome