Cervical Spine in Treacher Collins Syndrome

Abstract

Treacher Collins syndrome is a congenital syndrome with characteristic craniofacial malformations, which are well described in the literature. However, the presence of cervical spine dysmorphology in this syndrome has been minimally described. This study reviews cervical spine radiographs of 40 patients with Treacher Collins syndrome. In this sample, 7 of 40 patients displayed cervical spine anomalies, with 3 of these patients displaying multiple cervical spine anomalies. The patterns of spinal anomalies were variable, suggesting that the underlying genetic mutation has variable expressivity in cervical spine development as it does elsewhere in the craniofacial skeleton.

Optimal Diagnostic and Treatment Practices for Facial Dysostosis Syndromes: A Clinical Consensus Statement Among European Experts

“… 73 – 75 Ideally, an examination for multiple vertebral anomalies covers spina bifida occulta, dysmorphic vertebrae and/or spinous process(es), reduced intervertebral space, scoliosis, and pectus excavatum or carinatum (183). 73 , 75 Moreover, cardiac screening is preferably performed to detect anomalies including atrial and/or ventricular septal defect, and patent ductus arteriosus (184). 73 , 74 According to the experts, it is paramount to inform parents and, when appropriate, FDS patients themselves about the potential existence of at least cardiac and vertebral anomalies, to allow for timely detection and management (186).…”

“…In newly diagnosed FDS patients, the experts considered a comprehensive screening for extracranial anomalies preferable, with special attention to vertebral and cardiac anomalies, as well as limb anomalies in Nager and Miller syndrome, given their prevalence and clinical implications (182) 73–75 . Ideally, an examination for multiple vertebral anomalies covers spina bifida occulta, dysmorphic vertebrae and/or spinous process(es), reduced intervertebral space, scoliosis, and pectus excavatum or carinatum (183) 73,75 . Moreover, cardiac screening is preferably performed to detect anomalies including atrial and/or ventricular septal defect, and patent ductus arteriosus (184) 73,74 .…”

The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes: A literature review and three case reports

“…Findings of the craniofacial and cervicovertebral anomalies presented in these reports are in line with the previously reported results. 10,14,19,54,57,58 Nevertheless, the most characteristic finding of cervicovertebral morphology was the presence of cervical spine fusions. The fusions of the cervical spine were observed in all three case reports.…”

“…2,5,14,32 On the other hand, the deviations in cervicovertebral morphology in patients with cleidocranial dysplasia, Crouzon and Treacher-Collins syndromes are poorly reported. 54,55 In this regard, the aim of the study was to review available literature on this topic and to present the characteristics of craniofacial and cervicovertebral morphology in three patients with different genetic syndromes.…”

Extracraniofacial anomalies in Treacher Collins syndrome: A multicentre study of 248 patients

“…It is hypothesized that extracraniofacial anomalies occur more frequently than expected in patients with TCS. [19][20][21][22][23][24] There appear to have been no retrospective cohort studies focusing on the presence of extracraniofacial anomalies in TCS. Knowledge of the prevalence of extracraniofacial anomalies in TCS patients is important for (prenatal) screening and early intervention if needed.…”