Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrum

Abstract

Objectives The objectives of this study were to characterize the craniofacial and airway morphology of oculo‐auriculo‐vertebral spectrum (OAVS) individuals using computed tomography (CT) examination. Setting and Sample Population This sample included individuals in the age range from 5 to 14 years, consisted of a group of 18 OAVS individuals (12 females and 6 males), Pruzansky‐Kaban1 IIB and III and by a paired control group matched by age and sex for comparison of morphometric and airway variables. Materials and Methods Through the CT examination, airway analysis was performed using Dolphin Imaging® Software, and seven morphometric measurements were performed to evaluate craniofacial morphology by Materialize Mimics® Software. To compare airway and morphometric variables, the control group was used. Student's t test and Mann‐Whitney U test were performed to compare differences between the groups. Results Statistically significant differences were showed between the control and OAVS groups for the variables: total airway (TA) area, volume and MAA, RP area, RP volume, RP MAA, RG volume, RG MAA, total posterior height diff, Md incl and y‐axis asymmetry. Pearson and Spearman's correlation showed mostly moderate correlations between Mand Occlusal canting AS with TA area and RP volume, Ax‐Gn with TA area and Hy‐C3 with TA volume. Conclusions The OAVS's airway was altered and worse than the control group. Our results suggest that the contralateral side of OAVS individuals is unaffected; however, longitudinal assessments are needed to confirm it. Hyoid bone and postural measures play an important role in interpreting airway features of individuals with and without OAVS.

Goldenhar Syndrome: Quality-of-Life Analysis of 43 Consecutive Patients

“…4 Multiple other studies have demonstrated results similar to the present study. [17][18][19] . Therefore, the general assumption that GS affects men more frequently as compared with women should be re-examined using a multicenter study or an up-to-date systematic review.…”

Craniocervical Instability in Oculoauriculovertebral Spectrum

“…All patients with craniocervical instability had extracraniofacial anomalies (OMENS Plus), the main changes being radial; of those who did not present instability, 68.5% had extracraniofacial alterations, which also suggests that patients with more extracraniofacial findings tend to have higher craniocervical instability. In these patients, the airway may also be affected 14…”

“…In these patients, the airway may also be affected. 14 Due to the rarity of the condition evaluated in these patients, as well as the judicious choice of individuals for the evaluation of this study, a descriptive analysis was chosen so that the observed findings can serve as a basis for professionals who monitor patients with OAVS. Because it is a cross-sectional retrospective study, the study was subject to limitations in its methodology, such as the collection bias inherent in data involving handwritten records and the bias in selecting a referral center for the treatment of cleft lip and palate, as a higher prevalence of cleft lip and palate than found in other studies was observed.…”

Craniofacial Microsomia: New Updates in Spinal Anomalies

“…There is no consensus about the nomenclature and minimal criteria for diagnosis in CFM. Several terms have been used to represent the combination of clinical findings, such as first and second branchial arches syndrome, oculoauriculovertebral dysplasia, hemifacial microsomia, Goldenhar syndrome, oculoauriculovertebral spectrum and, most recently, craniofacial microsomia 2–8…”

“…Several terms have been used to represent the combination of clinical findings, such as first and second branchial arches syndrome, oculoauriculovertebral dysplasia, hemifacial microsomia, Goldenhar syndrome, oculoauriculovertebral spectrum and, most recently, craniofacial microsomia. [2][3][4][5][6][7][8] This condition presents etiologic and pathogenic heterogeneity. Environmental factors, such as maternal diabetes, chromosomal anomalies and genetic involvement with autosomal dominant inheritance or autosomal recessive inheritance patterns, complex inheritance-genetic factors associated with environmental factors-and maternal exposition to teratogenic drugs have been described in the medical literature.…”