Case Of Treacher Collins Syndrome Research Articles

Three-dimensional spiral CT of craniofacial malformations in children.

To assess the value of three-dimensional CT (3D CT) in the diagnosis and management of suspected paediatric craniofacial malformations. Twenty-eight children (12 girls, 16 boys) with a mean age of 4 years, suffering from craniofacial or cervical malformations, underwent craniofacial spiral CT. 3D reformatting was performed using an independent work-station. 3D CT allowed the preoperative evaluation of 16 patients with craniosynostosis and the post-surgical management of 2 patients. 3D CT clearly depicted malformations of the skull base involving the petrous bone in seven patients (four cases of Goldenhar-Gorlin syndrome, one case of Treacher-Collins syndrome and two cases of Crouzon's disease). Four patients with craniofacial clefts were also evaluated. Radiological findings were confirmed by the clinical and intraoperative findings in all patients that underwent surgical treatment. Movement artefacts and "Lego effect" related to abrupt change of cranial vault border were encountered and are discussed. 3D CT of the skull can safely and reliably identify paediatric craniofacial malformations involving bone, and it should be used as morphological mapping to help the surgeon in planning surgical treatment.

Correction of severe sleep apnea in a case of Treacher-Collins syndrome

Among many manifestations of Treacher Collins syndrome, obstructive sleep apnea is of particular significance because it may sometimes lead to life-threatening complications. A case of Treacher Collins syndrome accompanied by severe sleep apnea is presented. Horizontal and segmental osteotomies of the mandible were effective in treatment of the sleep apnea.

A case of Treacher-Collins syndrome

A case of Treacher-Collins syndrome

The Treacher Collins syndrome.

The main clinical and radiological features of two cases of Treacher Collins syndrome have been described. Radiologically, the outstanding features are: (1) Agenesis of the malar bones. (a) Non-fusion of the zygomatic arches. (b) Absence of the bodies of the malar bones. (c) Ossification of each malar bone from two centres, with non-fusion of the frontal processes. (2) Agenesis of the palatine bones. (3) Cleft palate. (4) Agenesis of the mandible, unilateral and/or bilateral.

Treacher-Collins Syndrome

Summary Two cases of Treacher Collins syndrome are reported. The family history is shown to be variable, but there appears to be a distinct familial incidence. A comparison has been drawn between the Treacher Collins syndrome and unilateral facial agenesis. The embryology is discussed, and it has been suggested that the causative factor may influence the development over a varying period, or by its concentration produce degrees of severity in the manifestations of this deformity.

Treacher collins syndrome

Summary Two cases of Treacher Collins syndrome are reported. The family history is shown to be variable, but there appears to be a distinct familial incidence. A comparison has been drawn between the Treacher Collins syndrome and unilateral facial agenesis. The embryology is discussed, and it has been suggested that the causative factor may influence the development over a varying period, or by its concentration produce degrees of severity in the manifestations of this deformity.