Laboratory Studies
See the list below:
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Midtrimester ultrasonography can detect facial dysmorphology and, because of its noninvasive quality, is preferred to fetoscopy, which greatly aided prenatal diagnoses in the 1980s. [8, 9] The images below are examples of fetal findings.
Anteroposterior view of 19-week-old fetus with Treacher Collins syndrome. Diagnosis was confirmed based on fetoscopy images. Tolarova M, Zwinger A. The use of fetoscopy by inborn morphological anomalies. Acta Chir Plast. 1981;23(3):139-51.
Lateral view of 19-week-old fetus with Treacher Collins syndrome. Diagnosis was confirmed based on fetoscopy images. Tolarova M, Zwinger A. The use of fetoscopy by inborn morphological anomalies. Acta Chir Plast. 1981;23(3):139-51.
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Mutations of the TCOF1 gene can be detected as single-nucleotide polymorphisms. Thus, prenatal diagnosis is possible but not yet clinically available. A prenatal diagnosis requires the following:
Blood samples from family members
Fetal cells obtained via chorionic villi sampling (performed at 10-11 weeks' gestation) or via amniocentesis (performed at 16-17 weeks' gestation)
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Assessment and monitoring of postnatal functions
Pulse oximeter monitoring of hemoglobin saturation with oxygen
Assessment of feeding efficiency
Audiologic testing
Neuroophthalmologic assessment
Full craniofacial CT scan (axial and coronal slices, from the top of the skull through the cervical spine)
Evaluation and genetic diagnosis by a medical geneticist
Imaging Studies
See the list below:
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The following imaging studies should be obtained to visualize craniofacial dysmorphology in detail and repeated, as needed, for surgical planning:
Anteroposterior and lateral cephalography
Full craniofacial CT scan (axial and coronal slices from the top of the skull through the cervical spine)
As follow-up, CT scans from orbits through mandible (usually enough for surgical planning)
Panoramic radiography
Brain MRI for inner auditory canal (IAC) study preferred (If MRI is not available, CT scan may be obtained for IAC.)
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If the clinical diagnosis of Treacher Collins syndrome is in doubt, radiological assessment can be useful. These tests are more helpful when mild expression is suspected upon clinical evaluation. The occipitomental projection of the skull (Waters view, anteroposterior with the canthomeatal line extended 45° with no inclination of the incident ray) can confirm zygomatic arch hypoplasia or aplasia. Orthopantomography should be used to demonstrate mandibular hypoplasia and changes in mandibular configuration. Temporomandibular joint abnormalities and asymmetry can be evaluated on these orthopantomograms. Roentgenography can also reveal any bony asymmetry in mild cases of Treacher Collins syndrome. If a patient needs any surgical correction or treatment, CT scan or MRI is mandatory.
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Anteroposterior view of 2-month-old boy with Treacher Collins syndrome.
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Lateral view of 2-month-old boy with Treacher Collins syndrome.
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Anteroposterior view of 2-year-old boy with Treacher Collins syndrome.
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Lateral views of 2-year-old boy with Treacher Collins syndrome.
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Anteroposterior view of 19-week-old fetus with Treacher Collins syndrome. Diagnosis was confirmed based on fetoscopy images. Tolarova M, Zwinger A. The use of fetoscopy by inborn morphological anomalies. Acta Chir Plast. 1981;23(3):139-51.
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Lateral view of 19-week-old fetus with Treacher Collins syndrome. Diagnosis was confirmed based on fetoscopy images. Tolarova M, Zwinger A. The use of fetoscopy by inborn morphological anomalies. Acta Chir Plast. 1981;23(3):139-51.
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Right-lateral cranial radiograph of an 18-month-old infant with Treacher Collins syndrome. Note the mandibular osteotomies and internal distraction hardware.
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Left-lateral cranial radiograph showing mandibular osteotomy and distraction osteogeneses for micrognathia.
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Lateral radiograph of same patient as in Media files 7 and 8. Completion of distraction; note increased mandibular length.
