Vertebral anomalies in craniofacial microsomia: a systematic review

Renkema, R.W.; Caron, Cornelia J.J.M.; Mathijssen, Irene M J; Wolvius, Eppo B.; Dunaway, David; Forrest, Chris; Padwa, Bonnie L.; Koudstaal, Maarten J.

doi:10.1016/j.ijom.2017.04.025

Cited by 22 publications

(45 citation statements)

References 55 publications

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“…In the thoracic region, hemivertebrae (10% to 50%) and semisegmented vertebrae are the most common malformations, leading to scoliosis or kyphoscoliosis in about 50%, 17,25 as seen in our patient, in whom balanced cervicothoracic scoliosis due to a T3 hemivertebra was found.…”

Section: Discussionsupporting

confidence: 50%

“…Regarding the prevalence of vertebral anomalies in OAVS, we found one recent systematic review, 25 including a large European register–based study by Barisic et al, 9 and two more recent large retrospective cohort studies. 17,26 The frequency of detected spine anomalies in OAVS varies from 8% to 83%.…”

Section: Discussionmentioning

confidence: 99%

“…Rib anomalies (aplasia, hypoplasia, fusion, and extra ribs) in the cervical and thoracic spine have equal frequency. 17,25…”

Section: Discussionmentioning

confidence: 99%

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Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature

et al. 2019

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Oculo-auriculo-vertebral spectrum (OAVS) is an uncommon congenital disorder of abnormal development of the first and second pharyngeal arches. This spectrum is characterized by craniofacial microsomia, epibulbar dermoids, ear abnormalities, renal and cardiac defects, and a wide range of vertebral segmentation and formation disorders. Frequently, the cervicothoracic spine is involved. Only recently, the morbidity attributed to the spinal abnormalities has gained attention. Strategy and timing of spine surgery has become increasingly important in patients with OAVS. Here, we report a case of OAVS with characteristic vertebral cervical and thoracic involvement and its sequelae requiring multiple spinal procedures, further complexed by an unprecedented occult tethered cord syndrome, which was successfully treated by surgical detethering. In this context, the recent literature on spinal anomalies is reviewed.

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Section: Discussionsupporting

confidence: 50%

Section: Discussionmentioning

confidence: 99%

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Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature

et al. 2019

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“…The exact origin of Goldenhar syndrome is unknown. The most widely accepted theory is that hemifacial microsomia is the result of a disturbance in the embryological development of the first and second branchial arches during the first 6 weeks of gestation [9]. During these first 6 weeks of embryological development, both the skull and spine are formed.…”

Section: Discussionmentioning

confidence: 99%

Severe Kyphoscoliosis in a Patient with Goldenhar Syndrome: A Case Report

Xue¹,

Zhao²

2018

Case Rep Orthop Res

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Introduction: Goldenhar syndrome includes a wide spectrum of congenital anomalies involving structures arising from the first and second branchial arches. It is characterized by impaired development of structures such as eyes, ears (with or without hearing loss), lip, tongue, palate, mandible, maxilla, and deformations of vertebrae. The etiology of this syndrome is unclear since it varies genetically and is linked to a plethora of reasons. Case Report: A 13-year-old male presented to the Orthopedic Department with complaints of back bulge with bilateral microtia since birth. X-ray and computed tomography revealed severe congenital kyphoscoliosis. Posterior vertebral column resection surgery with instrumentation and anterior cage support with bone graft fusion were performed. A postoperative plain X-ray film demonstrated a good correction rate. His follow-up was asymptomatic and well balanced in the sagittal and coronal planes at 6 months following operation. Systemic involvement was clinically and radiographically assessed. Conclusion: Patients with Goldenhar syndrome due to a large variety of abnormalities and different severity of symptoms pose a challenge for clinicians. All of this necessitates an individual approach to each single patient and involvement of a team of specialists in treatment planning. Although complex scoliosis surgery could be achieved safely in Goldenhar syndrome patients, careful preoperative management is required.

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“…This phenotype is characterized by a broad and heterogeneous spectrum of clinical features, mainly involving ears, mouth, mandible, eyes, and cervical spine (Colovati et al, 2015; Sharma & Passi, 2013). In addition, external environmental factors (vasoactive medications), maternal intrinsic factors (maternal diabetes), genetic factors (gene mutations), and chromosomal alterations may also lead to the development of this disorder (Chen, Zhao, Shen, & Dai, 2018; Hartsfield, 2007; Renkema et al, 2017).…”

Section: Introductionmentioning

confidence: 99%

Candidate genes of oculo‐auriculo‐vertebral spectrum in 22q region: A systematic review

Glaeser

Santos

Diniz

et al. 2020

American J of Med Genetics Pt A

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Oculo-auriculo-vertebral spectrum (hemifacial microsomia/OAVS, OMIM #164210) is a heterogenous and congenital condition caused by a morphogenesis defect of the first and second pharyngeal arches. Etiology includes unknown genetic, environmental factors and chromosomal alterations, which 22q11.2 region is the most frequently reported. Several candidate genes for OAVS have been proposed; however, none has been confirmed as causative of the phenotype. This review aims to sum up all clinical and molecular findings in 22q region of individuals diagnosed with OAVS and to investigate genes that may be involved in the development of the spectrum. A search was performed in PubMed using all entry terms to OAVS and Chromosome 22q11. After screening, 11 papers were eligible for review. Deletions and duplications in the q11.2 region were the most frequent (18/22) alterations reported and a total of 68 genes were described. Our systematic review reinforces the hypothesis that 22q11 region is a candidate locus for OAVS as well as CLTCL1, GSC2, HIRA, MAPK1, TBX1, and YPEL1 as potential candidates genes for genotype-phenotype correlation. Complementary studies regarding genes interaction involved in the 22q11 region are still necessary in the search for a genotype-phenotype association, since the diagnosis of OAVS is a constant medical challenge.

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Vertebral anomalies in craniofacial microsomia: a systematic review

Cited by 22 publications

References 55 publications

Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature

Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature

Severe Kyphoscoliosis in a Patient with Goldenhar Syndrome: A Case Report

Candidate genes of oculo‐auriculo‐vertebral spectrum in 22q region: A systematic review

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