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Goldenhar syndrome is a congenital condition that includes anomalies of the derivatives of the first and second brachial arches, vertebral defects and ocular abnormalities. It is also known as oculo-auriculo-vertebrale syndrome (OAVS), hemifacial microsomia, or first or second brachial arch syndrome. It was first described by Van Duyse in 1882 and...
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... regular dimensions and morphology. Atresia of the right auditory conduit and a normal left auditory conduit were observed. The upper images showed partial ossification of the cra- nium typical in paediatric age. Description of the profile: typical II class very convex profile with interposition of the inferior lip and a reduced neck-chin angle. (Fig. 1). Skeletal studies show that the mandibular condyle, ra- mus and corpus were shorter on the affected side. Tilt- ing of oral rhyme, occlusal plane and mandibular plane were evident. Number or form abnormalities were not found during mixed dentition. Mandibular condyles and temporo-mandibular joints seemed to be asymmetric, and in ...Similar publications
Goldenhar syndrome is a rare congenital anomaly involving the eye, ear, vertebra, and the mandible. This anomaly presenting primarily to the ENT outpatient clinic with ear discharge and cholesteatoma is still rarer. Here we describe one such rare case that was a challenge to diagnose as well as manage. We also discuss the various problems in the ma...
Citations
... If no external ear deformity is present, craniofacial imaging should be performed, including facial X-rays and also craniofacial MRI and 3D-CT scan, in order to explore external and internal auditory canal, orthodontics, facial bones and soft tissues, as recommended. 24 HFM should also be included in the minimal diagnostic criteria, obviously as HFM is the alternate name of OAVS and as the facial asymmetry is one of the most specific clinical features of this spectrum. ...
Oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome is due to an abnormal development of first and second branchial arches derivatives during embryogenesis and is characterised by hemifacial microsomia associated with auricular, ocular and vertebral malformations. The clinical and genetic heterogeneity of this spectrum with incomplete penetrance and variable expressivity, render its molecular diagnosis difficult. Only a few recurrent CNVs and genes have been identified as causatives in this complex disorder so far. Prenatal environmental causal factors have also been hypothesised. However, most of the patients remain without aetiology. In this review, we aim at updating clinical diagnostic criteria and describing genetic and non-genetic aetiologies, animal models as well as novel diagnostic tools and surgical management, in order to help and improve clinical care and genetic counselling of these patients and their families.
... Management of Goldenhar syndrome requires a multidisciplinary approach. 26 Binder's syndrome has variable presentation and the treatment strategy varies depending on the facial correction needed and patients' demands. 27 We encountered one patient of Waardenburg syndrome type 1, who had a broad nasal root, dystopia canthorum, brilliant blue irises and sensorineural hearing loss in both ears. ...
p class="abstract"> Background: The otorhinolaryngological developmental anomalies are predisposed by a number of factors like genetic factors, intrauterine infection and maternal nutritional deficiencies. The otorhinolaryngological anomalies may be associated with other systemic maldevelopments.
Methods: A total of 134 cases of congenital otorhinolaryngological childhood anomalies, fulfilling the inclusion criteria, who presented to the out-patient department were examined for a period of one year from January 2019, and were included in the study. They were thoroughly evaluated by undertaking a detailed history and clinical examination. Whenever required, additional investigations were performed. After carrying out the necessary investigations, the cases were either managed surgically or conservatively. Data was evaluated using proper statistical tools.
Results: Out of the 134 cases, 64.9% were male and 35.1% were female. In our study, 116 cases presented in the first decade of life and 18 cases presented in the second decade of life, up to 18 years of age. The most common childhood congenital anomaly was congenital deafness, which accounted for 44% of all cases.
Conclusions: Encountering cases of congenital anomalies in childhood is quite common during practice of otorhinolaryngology. Parents of the suspected children should be counselled properly to investigate other systemic anomalies. Medical and surgical management of the condition should be undertaken hand in hand with adequate counselling.</p
... Typical posterior SBD can be readily diagnosed with a panoramic radiograph due to their unique features. However, CT has additional advantages for the volumetric reproduction of cranium and soft tissues such as the absence of the overlap of anatomic parts that limits the visibility of the structures and the presence of a constant and easily reproducible reference system (23). Classic SBD was described as a round or ovoid, welldefined, unilocular radiolucency located below the mandibular canal between the first molar and the angle of the mandible (2). ...
Background:
This systematic review integrated the available data published in the literature on Stafne's bone defect (SBD), considering the clinical, imaging and histopathological results.
Material and methods:
An electronic search was undertaken in six databases. Eligibility criteria were: articles in English, Spanish, and Portuguese describing case reports or case series of SBD, reported up to September/2021. Risk of bias was assessed using the Joanna Briggs Institute tool.
Results:
A total of 98 articles were retrieved, involving 465 individuals with SBD and were included for quantitative analysis. Mean age was 52.78 years (range: 11-89 years), with male predilection (n=374/80.85%). Radiographs were the most frequent imagiological exams (n=298/64.09%), followed by computed tomography (n=98/21.08%). SBD was more prevalent in the posterior mandible (n=361/93.77%) as a hypodense radiolucent lesion (n=250/77.40%). Mean size was 1.58 cm (range: 0.3-.8.0 cm). Two-hundred-and-two lesions (97.37%) were unilocular and 126 (91.97%) were classified as well-defined. Clinical symptoms were reported in 73 cases, while 68 cases (93.15%) were asymptomatic. Only 34 cases (12.32%) were submitted to histopathological examination. Mean follow-up time was 26.42 ±25.39 months.
Conclusions:
SBD is more frequent in male patients in the fifth and sixth decade of life. Classic SBD is radiographically characterized as a single, unilocular and well-defined lesion in the posterior region of the jaw with a radiolucent/hypodense appearance.
... 10,16 The complexity and variety of the alterations pose the need for several examinations, such as panoramic radiography, cephalometric and cervical spine x-rays, and sometimes a volumetric imaging technique that allows a detailed analysis of bone structures, such as multislice spiral computed tomography (MSCT). 3,17 Although magnetic resonance imaging (MRI) does not depict cortical bone well, it has been recently used as an alternative tool 18 because the MSCT of the cervical spine and head delivers a high x-ray radiation dose. 19,20 Nothing has been published about a possible diagnostic role of cone-beam computed tomography (CBCT) in Goldenhar syndrome. ...
... 10 There is no agreement among authors on the definition of the minimum disease criteria. [3][4][5][6][7][11][12][13][14][15]17 The high variability of the craniofacial skeletal alterations among the patients was proved by the high standard deviation values of the reduction factors of most of the measurements. It was particularly clear for the external ear canal and the middle ear volumes because total atresia of the external ear canal and agenesis of the ossicular chain were detected in some patients, whereas only neurosensorial hypoacusis was found in others. ...
Introduction
Goldenhar syndrome is a rare disease with hemifacial microsomia and craniofacial disorders originating from the first and second branchial arches, such as ocular, auricular, and vertebral anomalies. The complexity and variety of the ways in which the disease presents itself usually need several examinations. In this study, we aimed to evaluate both craniofacial and vertebral skeletal anomalies and asymmetries between the nonaffected and affected sides in patients with Goldenhar syndrome by using cone-beam computed tomography.
Methods
Ten patients (7-14 years old; 6 boys, 4 girls) were evaluated via NewTom 5G cone-beam computed tomography (QR srl, Verona, Italy) with a large field of view (18 × 16 cm). Ten anatomic facial landmarks were identified to measure the following distances bilaterally: sella turcica (ST)-mandibular angle, ST-condyle, ST-mastoid, ST-mental foramen, ST-fronto zygomatic suture, ST-zygomatic temporal suture, ST-zygomatic facial foramen, ST-sphenopalatine fossa, mandibular angle-mandibular symphysis, and mandibular angle-condyle. The following 6 volumes were calculated bilaterally: orbit, maxillary sinus, condyle, external ear canal, middle ear, and internal auditory canal. These measurements were performed to assess skeletal asymmetries to compare the nonaffected side with the affected side by the Wilcoxon test. Cervical spine anomalies were classified into fusion anomalies and posterior arch deficiencies.
Results
All patients showed a deficit of skeletal development on the affected side. Statistically significant differences (0.001 ≤ P value ≤ 0.043) between the nonaffected and affected sides were recorded for all measurements, except for ST-frontozygomatic suture, mandibular angle-mandibular symphysis, and maxillary sinus volume. Vertebral fusion anomalies and posterior arch deficiencies were found in 7 and 4 patients, respectively.
Conclusions
Cone-beam computed tomography with a large field of view was able to accurately identify craniofacial and vertebral skeletal anomalies, and to quantify asymmetries between the nonaffected and affected sides for an efficient maxillofacial treatment planning.
... GS was first described by Van Duyse in 1882 and later by Maurice Goldenhar in 1952. Also known as oculo-auriculovertebral dysplasia, GS is a congenital anomaly caused due to the anomalous development of the first and second brachial arches [1,2]. This syndrome is characterized by anomalies in a wide range of systems including ocular, auricular, vertebral, cardiovascular, pulmonary, renal, skeletal and central nervous systems [3]. ...
... Treatment plans must be tailored to each patient. Surgical planning is mostly based on surgeon experience but might be improved by current imaging techniques [7]. BCephalometric radiography,^based on plain radiographs, has been used since 1930. ...
Objectives
Facial asymmetries in oculoauriculovertebral spectrum (OAVS) patients might require surgical corrections that are mostly based on qualitative approach and surgeon’s experience. The present study aimed to develop a quantitative 3D CT imaging-based procedure suitable for maxillo-facial surgery planning in OAVS patients.
Materials and methods
Thirteen OAVS patients (mean age 3.5 ± 4.0 years; range 0.2–14.2, 6 females) and 13 controls (mean age 7.1 ± 5.3 years; range 0.6–15.7, 5 females) who underwent head CT examination were retrospectively enrolled. Eight bilateral anatomical facial landmarks were defined on 3D CT images (porion, orbitale, most anterior point of frontozygomatic suture, most superior point of temporozygomatic suture, most posterior-lateral point of the maxilla, gonion, condylion, mental foramen) and distance from orthogonal planes (in millimeters) was used to evaluate the asymmetry on each axis and to calculate a global asymmetry index of each anatomical landmark. Mean asymmetry values and relative confidence intervals were obtained from the control group.
Results
OAVS patients showed 2.5 ± 1.8 landmarks above the confidence interval while considering the global asymmetry values; 12 patients (92 %) showed at least one pathologically asymmetric landmark. Considering each axis, the mean number of pathologically asymmetric landmarks increased to 5.5 ± 2.6 (p = 0.002) and all patients presented at least one significant landmark asymmetry.
Conclusions
Modern CT-based 3D reconstructions allow accurate assessment of facial bone asymmetries in patients affected by OAVS. The evaluation as a global score and in different orthogonal axes provides precise quantitative data suitable for maxillo-facial surgical planning.
Clinical relevance
CT-based 3D reconstruction might allow a quantitative approach for planning and following-up maxillo-facial surgery in OAVS patients.
... most studies report improved airway and respiratory status in patients after Do based on polysomnography, cephalometry, decannulation rates and imaging studies. it is known from the literature that posterior airway volume can be accurately measured three-dimensionally using CT [4][5][6] . nevertheless, few studies have measured the extent of the increase in volume of PAS as a result of Do and no study has related the extent of distraction with the increase in volume itself. ...
Mandibular distraction osteogenesis (MDO) is currently an accepted method of treatment for patients requiring reconstruction of hypoplastic mandibles. To date one of the unsolved problems is how to assess the quantitative increase of mandible length needed to achieve a significant change in the volume of the posterior airway space (PAS) in children with mandibular micrognathia following distraction osteogenesis. The purpose of this study is to present quantitative volumetric evaluation of PAS in young patients having distraction osteogenesis for micrognathia using 3D-CT data sets and compare it with pre-operative situation. In this observational retrospective study, we report our experience in five consecutive patients who underwent MDO in an attempt to relieve severe upper airway obstruction. Each patient was evaluated before treatment (T0) and at the end of distraction procedure (T1) with computer tomography (CT) in axial, coronal, and sagittal planes and three-dimensional CT of the facial bones and upper airway. Using parameters to extract only data within anatomic constraints, a digital set of the edited upper airway volume was obtained. The volume determination was used for volumetric qualification of upper airway. The computed tomographic digital data were used to evaluate the upper airway volumes both pre-distraction and post-distraction. The mean length of distraction was 23 mm. Quantitative assessment of upper airway volume before and after distraction demonstrated increased volumes ranging from 84% to 3,087% with a mean of 536%. In conclusion, our study seems to show that DO can significantly increase the volume of the PAS in patients with upper airway obstruction following micrognathia, by an average of 5 times. Furthermore, the worse is the starting volume, the greater the increase in PAS to equal distraction.
... Kidney and gastrointestinal tract anomalies may be encountered, albeit the latter ones rarely. Hearing impairment varies from mild, moderate conduction, and moderate to severe SNHI (Mutanabbi et al., 2014; Saccomanno et al., 2014; Chauhan et al., 2015). ...
Hearing impairment is the most conjoint sensory debit in humans which include perturbations due to both environmental factors and genetic causes, with changeable times of onset ranging from congenital deafness to presbycusis. A hearing defect beginning in early childhood has dramatic effects on speech acquisition and psychosocial development. Later onset of a hearing defect seriously compromises the subject’s quality of life as the affected individual becomes increasingly socially isolated. About 1 in 1000 children become severe to profound deaf before adulthood. More than 100 loci and 49 casually concerned genes are identified for monogenic hearing loss. About 70% of hereditary hearing impairment cases are classified as non-syndromic deafness (isolated hearing loss) and 30% as syndromic deafness (hearing loss with other anomalies). The mode of inheritance of non-syndromic hearing impairment is autosomal recessive (80%), autosomal dominant (20%), X-linked (1%) and mitochondrial (<1%). Non-syndromic hearing impairment is highly heterogeneous and about 50% of prelingual autosomal recessive hearing impairment is caused by mutation on the DFNB1 locus harboring GJB2 gene. More than 400 genetic syndromes that include deafness are defined and estimated to be account for 30% of prelingual deafness. In the present study, three families with autosomal recessive syndromic hearing impairment (A, B, D) and one family (C) with autosomal recessive non-syndromic hearing impairment were ascertained from different regions of Pakistan. Family C establish linkage to the gene ESRRB on chromosome 14q24.3. However, sequence analysis failed to identify potential sequence variants in the gene ESRRB in DNA of the affected individuals. In rest of three families (A, B, D), genotyping by polymorphic microsatellite markers revealed that affected individuals were heterozygous for different combinations of parental alleles, thus excluding the linkage in these families to the established hearing impairment candidate regions.
Craniofacial malformation is one of the most commonly encountered birth defects in the prenatal and postnatal periods. Higher-resolution and 3D antenatal ultrasonography and multidetector computed tomographic scan with 3D reformatted images have improved the definition of the soft tissue and bone structures of the craniofacial anatomy and its malformations. Early diagnosis of these conditions is important to make the clinical decisions and more so in understanding the possibility of malformation recurring in the next pregnancy, which is one of the major concerns for the parents and the treating physicians.
Background
Class II subdivision is an asymmetric condition presenting a Class I dental occlusion on one side and a Class II on the contralateral one. It presents a midline deviation that may be caused by a monolateral distalization of the mandible (type 1) or a mesialization of one side of the maxilla (type 2). The evaluation of asymmetry based on 2D radiographic records has been demonstrated to be less accurate than the one made using 3D radiographs.
Objective
The aim of this work is to evaluate the facial asymmetry in a group of patients with Class II subdivision, compared to patients in Class I without evident asymmetry, by using 3D photographs of the face.
Methods
32 young adults with Class II subdivision were compared to a group of 32 subjects with bilateral Class I molar relationship. 3D photograph of their face was acquired using a stereophotogrammetric camera (3dMDtrio System-3dMD Atlanta, GA, USA). 3D photographs were imported into the Geomagic Software to create mirror 3D photography. Independent T-tests were made to compare facial asymmetries measured on Class II subdivision group with the Class I group.
Results
The results show that there is a statistically significant difference in landmarks location between the control group and the experimental group regarding the values measured at the level of the lips and the perioral area. The asymmetry was more marked in patients with mandibular midline deviation. This is in line with previous observations with radiographic investigations.
Conclusion
For a correct assessment of the asymmetry, a study of 3D photographs cannot replace an evaluation by cone beam, but it can be an important aid to estimate possible asymmetries in the perioral area and in the lip area.
