Vertebral anomalies in craniofacial microsomia: a retrospective analysis of 991 patients

Renkema, R.W.; Caron, Cornelia J.J.M.; Wolvius, Eppo B.; Rooijers, W.; Schipper, J.; Dunaway, David; Forrest, Chris; Padwa, Bonnie L.

doi:10.1016/j.ijom.2018.05.016

Cited by 10 publications

(12 citation statements)

References 62 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The craniofacial microsomia nomenclature currently includes the terms oculo‐auriculo‐vertebral spectrum, oculo‐auriculo‐vertebral dysplasia, hemifacial microsomia, facioauriculovertebral sequence, and Goldenhar syndrome. A recent systematic review confirms that hemivertebra are frequently found in craniofacial microsomia 90 . Similar to Jarcho‐Levin syndrome, molecular genetic testing was not routinely pursued for craniofacial microsomia in cases described in our review.…”

Section: Resultsmentioning

confidence: 57%

See 1 more Smart Citation

Genetics of non‐isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases

et al. 2022

View full text Add to dashboard Cite

Hemivertebra is a congenital vertebral malformation caused by unilateral failure of formation during embryogenesis that may be associated with additional abnormalities.A systematic review was conducted to investigate genetic etiologies of non-isolated hemivertebra identified in the fetal, neonatal, and infant periods using PubMed, Cochrane database, Ovid Medline, and ClinicalTrials.gov from inception through May 2022 (PROSPERO ID CRD42021229576). The Human Phenotype Ontology database was accessed May 2022. Studies were deemed eligible for inclusion if they addressed non-isolated hemivertebra or genetic causes of non-isolated hemivertebra identified in the fetal, neonatal, or infant periods. Cases diagnosed clinically without molecular confirmation were included. Systematic review identified 23 cases of non-isolated hemivertebra with karyotypic abnormalities, 2 cases due to microdeletions, 59 cases attributed to single gene disorders, 18 syndromic cases without known genetic etiology, and 14 cases without a known syndromic association. The Human Phenotype Ontology search identified 49 genes associated with hemivertebra. Non-isolated hemivertebra is associated with a diverse spectrum of cytogenetic abnormalities and single gene disorders. Genetic syndromes were notably common. Frequently affected organ systems include musculoskeletal, cardiovascular, central nervous system, genitourinary, gastrointestinal, and facial dysmorphisms. When non-isolated hemivertebra is identified on prenatal ultrasound, the fetus must be assessed for associated anomalies and genetic counseling is recommended.

show abstract

Section: Resultsmentioning

confidence: 57%

“…A recent systematic review confirms that hemivertebra are frequently found in craniofacial microsomia. 90 Similar to Jarcho-Levin syndrome, molecular genetic testing was not routinely pursued for craniofacial microsomia in cases described in our review.…”

Section: Resultsmentioning

confidence: 97%

Genetics of non‐isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases

et al. 2022

View full text Add to dashboard Cite

show abstract

“…The number of patients analyzed was significantly lower than studies conducted by other colleagues. 11,19,18 Multicenter studies may result in a larger patient population, thus producing more robust results.…”

Section: Discussionmentioning

confidence: 99%

Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia

Raposo

Ferreira

Silva

et al. 2021

Journal of Craniofacial Surgery

View full text Add to dashboard Cite

Introduction: Craniofacial microsomia (CFM) is caused by abnormalities in the development of the first and second pharyngeal arches. One-third to half of the patients with CFM also present with extra craniofacial (ECF) malformations. The knowledge of the visceral alteration related to CFM is vital for optimized care and a better prognosis. Aim: To describe the incidence of ECF malformations in patients with CFM and to infer if there was a correlation between CFM and ECF malformations. Materials and Methods: The authors analyzed medical records of patients diagnosed with CFM from 1996 to 2006. The data collected included age, gender, category of craniofacial alteration, and the type of ECF malformation when present. The sample was inspected to find possible correlations between craniofacial abnormalities and ECF malformations. Results: The sample included 102 patients, with a mean age of 7 years and a predominance of males (61.8%). Ear malformations (93.1%) followed by mandible (59.8%) and facial nerve (10.8%) abnormalities were the most common CFM. Among patients with CFM, 37.2% had ECF involvement, mainly in vertebrae (20%), heart (11%), and limbs (9.8%). Multivariate analysis revealed that the presence of ear malformations was related to a higher incidence of nonspecific visceral malformations (P ¼ 0.034) and that mandible malformation was related to an increased incidence of vertebral malformations (P ¼ 0.008). Conclusion: A significant percentage of patients with CFM presented associated ECF impairment. Ear and mandible involvement may be predictors of nonspecific visceral malformation and vertebral malformations, respectively.

show abstract

“…Johns et al 72 analysed 89 patients from the same cohort at a later time; 19 patients from the original cohort were lost to follow-up. Several authors described external ear anomalies in patients from the same retrospective multicentre cohort study 6,63,[74][75][76] . However, to avoid a repetition of the same results, only the most recent record describing this cohort was used for further analysis 63 .…”

Section: Study Characteristicsmentioning

confidence: 99%

Hearing impairment and ear anomalies in craniofacial microsomia: a systematic review

Rooijers

Tio

Schroeff

et al. 2022

International Journal of Oral and Maxillofacial Surgery

Self Cite

View full text Add to dashboard Cite

The aim of this systematic review was to review the literature on hearing impairment and ear anomalies in patients with craniofacial microsomia and to determine their prevalence. Sixty-two records including 5122 patients were included. Ear anomalies were present in 52-100% of patients. The most reported external ear malformations were microtia, pre-auricular tags, and atresia of the external auditory canal. Ossicular anomalies were the most reported middle ear malformations, whereas the most reported inner ear malformations included oval window anomalies, cochlear anomalies, and anomalies of the semicircular canals. Hearing loss in general was reported in 29-100% of patients, which comprised conductive hearing loss, mixed hearing loss, and sensorineural hearing loss. Between 21% and 51% of patients used hearing aids, and 58% underwent a surgical intervention to improve hearing. The relationship between different phenotypes of craniofacial microsomia and the type and severity of hearing loss is mostly unclear. In conclusion, the high prevalence of ear and hearing anomalies in patients with craniofacial microsomia underlines the importance of audiological screening in order to facilitate individual treatment.

show abstract

Vertebral anomalies in craniofacial microsomia: a retrospective analysis of 991 patients

Cited by 10 publications

References 62 publications

Genetics of non‐isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases

Genetics of non‐isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases

Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia

Hearing impairment and ear anomalies in craniofacial microsomia: a systematic review

Contact Info

Product

Resources

About