A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.

EDSS1, a syndrome characterized by ectodermal dysplasia-syndactyly, is inherited in an autosomal recessive manner due to mutations in the NECTIN4/PVRL4 gene. Clinical manifestations of the syndrome include defective nail plate, sparse to absent scalp and body hair, spaced teeth with enamel hypoplasia, and bilateral cutaneous syndactyly in the fingers and toes. Here, we report a consanguineous family of Kashmiri origin presenting features of EDSS1. Using whole exome sequencing, we found a recurrent nonsense mutation (NM_030916: c.181C > T, p.(Gln61 ∗)) in the NECTIN4 gene. The variant segregated perfectly with the disorder within the family. The candidate variant was absent in 50 in-house exomes pertaining to other disorders from the same population. In addition to the previously reported clinical phenotype, an upper lip cleft was found in one of the affected members as a novel phenotype that is not reported by previous studies in EDSS1 patients. Therefore, the study presented here, which was conducted on the Kashmiri population, is the first to document a NECTIN4 mutation associated with the upper lip cleft as a novel phenotype. This finding broadens the molecular and phenotypic spectrum of EDSS1.

Rare variant of dens invaginatus with accessory root and labial talon cusp in maxillary lateral incisor-Case report.

Dens invaginatus (DI) often causes dysmorphic changes in both the crown and root. This case report presents a complicated type 3a DI in a maxillary lateral incisor with labial talon cusp and root bifurcation. Although lingual talon cusp is common in maxillary lateral incisor, labial talon cusp is rare. An auxiliary palatal root in maxillary lateral incisor is also unusual. No such case involving all three variations has been described in the literature. The DI was classified as type B4 according to Schulze and Brand, as it involved division of pulp and root. DI was managed by orthograde MTA, radisectomy and periodontal regeneration was done for the palatal root. Labial talon associated with DI and can lead to early periodontal/pulpal involvement. Type 3 DI can affect the root with marked dilatation and division. Additional palatal root should be carefully detected in type 3a DI and managed with the aid of CBCT.

Cleft palate-lateral synechiae syndrome: a case report.

Cleft palate-lateral synechiae syndrome (CPLSS) is an extremely rare congenital malformation syndrome with undetermined etiology, characterized by a cleft palate and lateral intraoral synechiae linking the free borders of the palate to the mouth floor. We report a case of a female neonate, admitted for suckling difficulties with a cleft lip and palate associated to multiple lateral intraoral synechiae. Resection of the synechiae allowed oral feeding. Cleft palate-lateral synechiae syndrome is an exceptional syndrome as only seventeen cases have been reported in the literature. Synechiae can be isolated or more frequently in association with other congenital anomalies such as cleft lip and/or palate. These synechiae can cause functional deficits, especially in the respiratory and feeding tracts, language disorders or recurrent otitis. Although it is exceptional, this malformative entity must be known by medical practitioners in order to set up a well-adapted therapeutic protocol.

Anesthetic management in an infant with tetra-amelia syndrome with congenital maxillomandibular fusion: A case report.

A 10-month-old girl who had tetra-amelia syndrome and congenital maxillomandibular fusion (syngnathia) was scheduled for the surgical fusion separation. Anesthetic management for this case was considerably challenging. Standard monitoring was still applied to the patient's extremities. IV access was suspected to be difficult but firmly needed before intubation to provide resuscitation during an emergency. Connecting anesthetic circuit with nasopharyngeal airway was the preferred technique due to its benefits such as maintaining spontaneous ventilation, providing inhaled anesthetic, as well as monitoring oxygenation and ventilation. Importantly, the cornerstones for handling such complicated cases are multidisciplinary approach and teamwork.

CHARGE syndrome without colobomas: Ophthalmic findings.

To report ophthalmic findings of patients without colobomas, and with a clinical and molecular diagnosis of CHARGE Syndrome. Retrospective study of ophthalmic findings in 67 CHARGE patients-clinically confirmed diagnosis with positive CHD7 mutation-seen in the Ophthalmology department of Cincinnati Children's Hospital Medical Center between January 1, 2008 through September 25, 2018. Criteria for inclusion in this study was absence of any form of a coloboma in either eye. In our cohort, all patients had a positive CHD7 mutation, in addition to a clinical diagnosis. 19.4% (13/67) of CHARGE patients did not have a coloboma in either eye. 69.2% (9/13) had strabismus, 76.9% (10/13) had a refractive error that warranted refractive correction, 23.1% (3/13) had amblyopia, 38.5% (5/13) had nasolacrimal duct obstruction, 30.8% (4/13) had dry eye syndrome and exposure keratopathy, 15.4% (2/13) had ptosis, 15.4% (2/13) had blepharitis, 15.4% (2/13) had Cortical Visual Impairment, 7.7% (1/13) of patients had optic nerve drusen, 7.7% (1/13) had Marcus Gunn Jaw Winking, and 7.7% (1/13) with an eyelid nevus. There are numerous ophthalmic findings in individuals with CHARGE Syndrome without colobomas. No study to date has evaluated the ophthalmic findings in CHD7 positive CHARGE patients without colobomas. These findings need to be assessed and treated to ensure optimal vision in the CHARGE patient population. Absence of coloboma does not rule out a diagnosis of CHARGE syndrome, and if there is a clinical suspicion, clinical confirmation then genetic testing would be warranted.

Impact of orthognathic surgery on the body posture.

BACKGROUND: Postural control is classically described as being based on the visual, vestibular, and proprioceptive musculo-articular sensory systems. The influence of mandibular proprioception on postural stabilization remains controversial. Most previous studies analyzed how postural stability is influenced by partial changes in mandibular proprioception (dental occlusion and jaw position). RESEARCH QUESTION: In the present experiment, we asked whether drastic mandibular changes, resulting from orthognathic surgery (including dental, joint and muscular efferents), modify postural control. METHODS: The analyzes were performed in 22 patients tested before, and 2.5 months, after orthognathic surgery for treatment of dysmorphic jaws. Experiments were performed under 4 experimental conditions: 2 visual conditions: Eyes Open (EO) and Eyes Closed (EC), and 2 occlusal conditions: Occlusion (OC: mandible positioned by the contact of the teeth), and Rest Position (RP: mandible positioned by the muscles without tooth contact). The analyses focused on head orientation in the frontal plane and on postural stabilization in a static task, consisting of standing upright. RESULTS: The results show that, 2.5 months after orthognathic surgery, head orientation in the frontal plane was improved, since patient's external intercanthal lines became closer to the true horizontal line when they were tested EC and in OC condition. Postural responses, based on the wavelet transformation data, highlight an improvement in maintaining an upright stance for all the tested sensory conditions. However, such improvement was greater in the EC and RP conditions. SIGNIFICANCE: These results show, for the first time, that after drastic mandibular changes, the weight of proprioceptive cues linked to the mandibular system may be so enhanced that it may constitute a new reference frame to orient the head in space, in darkness, and improve static postural stabilization, even in the presence of visual cues.

Periodontal mechanoreceptors and bruxism at low bite forces.

OBJECTIVE: In this study, we examined if 6-9 Hz jaw tremor, an indirect indicator of Periodontal Mechanoreceptor (PMR) activity, is different in bruxists compared to healthy participants during production of a low-level constant bite force. METHODS: Bite force and surface EMG from the masseter muscle were recorded simultaneously as participants (13 patients, 15 controls) held a force transducer between the upper and lower incisors very gently. RESULTS: Tremor in 6-9 Hz band for bruxists was greater on average compared to controls, but the difference was not significant, both for force recordings and EMG activity. CONCLUSIONS: The low effect sizes measured with the current protocol contrast highly with those of our previous study, where larger, dynamic bite forces were used, and where jaw tremor was markedly different in bruxists compared with controls. SIGNIFICANCE: We have now gained important insight into the conditions under which abnormal jaw tremor can be elicited in bruxism. From a scientific standpoint, this is critical for understanding the 'abnormality' of PMR feedback in bruxism. From a clinical perspective, our results represent progress towards the development of an optimal protocol in which jaw tremor can serve as a biological marker of bruxism.

Marcus Gunn (jaw-winking) phenomenon in pediatric otorhinolaryngology practice.

Marcus Gunn phenomenon (MGP) is a rare form of congenital facial synkinesis known as jaw-winking or pterygoid-levator synkinesis. The MGP is the raising of the affected eyelid is synchronous and proportionate to the opening of the mouth. The etiology is unclear. Most authors claim that a branch of trigeminal nerve has been congenitally misdirected into position of the oculomotor nerve which supplies the levator muscle of the upper lid. The MGP deals with number of problems which have to be manage by ENT doctors, but they are not well­documented. We describe the first time Marcus Gunn phenomenon associated with an olfactory nerve disturbance. We have especially emphasized laryngological aspect of MGP diagnosis and the need for deeper interdisciplinary diagnostics in each child with olfactory dysfunction.

Osteoporosis and Jaw Abnormalities in Panoramic Radiography of Chronic Liver Failure Patients.

INTRODUCTION: Patients with chronic liver failure (CLF) are faced with many complications, because this organ is involved in various metabolic activities. Hepatic osteodystrophy is one of the major health issues encountered by this group of patients. The current study evaluated osteoporosis and bone changes in oral panoramic radiographies of cirrhotic patients. MATERIALS AND METHODS: In this study, 138 panoramic views of CLF patients, candidates for liver transplant (65 females, 73 males, aged 19-68 years) referred to Shiraz University Dental Clinic (Shiraz, Iran) for pretransplant oral examination, were evaluated. Also 138 healthy individuals (69 females, 69 males, aged 18-70 years) referred to the same clinic were examined. Abnormalities such as osteoporosis, pathologic radiolucencies, pathologic calcifications, tonsilloliths, condylar degeneration, and other findings in the alveolar bones were recorded. RESULTS: Osteoporosis was a common finding in CLF patients (p<0.001), and the probability of detecting low bone density in the panoramic view was 20.37 times higher among patients than healthy subjects. The probability of detecting pathologic jaw radiolucencies was 8.92 times higher in the case group than in the controls (p<0.001). Other bone abnormalities such as condylar degeneration and idiopathic osteosclerosis were also more prevalent in CLF patients compared to healthy subjects (p<0.001). CONCLUSION: Cirrhotic patients are prone to osteoporosis of the alveolar bones. Also, pathologic jaw radiolucencies as a result of oral infections are more prevalent in this group of patients. Routine oral panoramic views are acceptable and cost-effective radiographies for use in detecting such abnormalities in the alveolar bones as well as overall dental health. These findings also support the importance of dental health examinations prior to liver transplantation to reduce the risk of organ rejection.

Using cone beam CT to assess the upper airway after surgery in children with sleep disordered breathing symptoms and maxillary-mandibular disproportions: a clinical pilot.

BACKGROUND: The surgical excision of anatomic obstructions such as adenoids, palatine or lingual tonsils are commonly performed in children with sleep disordered breathing (SDB). Imaging studies measuring airway changes post-surgery in the SDB pediatric population are scarce, rarely addresses the nasal cavity, and are based on global measures (e.g. volume) that do not represent the complexity of the upper airway anatomy. The purpose of this pilot is to test the feasibility in using cone beam CT (CBCT) to analyze the nasal and pharyngeal airway space post-surgery using meaningful methods of analyses, and correlating imaging findings with clinical outcomes in children with SDB symptoms and maxillary-mandibular disproportion. METHODS: Twelve non-syndromic children with SDB symptoms and jaw disproportions were evaluated by interdisciplinary airway team before and after upper airway surgery. CBCT and OSA-18 quality of life questionnaire pre and post-operatively were completed. Conventional and new airway variables were measured based on 3D models of the upper airways and correlated with OSA-18. Conventional measures include volume, surface area, and cross-sectional area. New airway measures include constriction and patency; point-based analyses. RESULTS: Eight females and four males were 8.8 ± 2 years with mean BMI of 18.7 ± 3. OSA-18 improved, median (lower quartile-upper quartile) from 64.2 (54.7-79.5) to 37.6 (28.7-43) postoperatively, p < 0.001. The median of all airway measures improved however with very wide range. Subjects with the smallest amounts of constriction relief and/or gain in airway patency presented with least improvement in OSA-18. New airway measures show strong correlation with changes in OSA-18 (ρ = 0.44 to 0.71) whereas conventional measures showed very weak correlation (ρ = -0.04 to 0.37). CONCLUSIONS: Using point-based analyses, new airway measures better explained changes in clinical symptoms compared to conventional measures. Airway patency gained by at least 150% and constriction relief by at least 15% showed marked improvement in OSA-18 by 40-55%, after surgery in the tested cohort.

Bilateral coronoid hypoplasia and complex odontoma: a rare concurrence of developmental pathology and odontogenic tumour of the mandible.

We present a rare case of concurrent bilateral coronoid hypoplasia and complex odontoma in the mandible, with replacement of missing posterior teeth in both sides of the lower jaw. A 20-year-old woman was diagnosed with bilateral occurrence of coronoid hypoplasia and unerupted complex odontoma after radiographic and histopathological examination. The patient was surgically treated with complete removal of the unerupted complex odontoma and prosthetic replacement of the missing teeth.

Plurimalformative syndrome associating trisomy 18 and omphalocele. Case report and review of the literature.

Trisomy 18 or Edwards syndrome is a rare chromosomal anomaly, associated with mild to severe intellectual disabilities and multiple congenital anomalies. Trisomies 18 and 13 are lethal, only 5-10% of patients surviving the first year of life. Although prenatal biological and ultrasound investigations are mandatory and free and the detection rate of chromosomal abnormalities is high, the birth of children with no real chance at a normal life being thus avoided by therapeutic abortion, the parents of the here presented child did not benefit from medical examination or prenatal tests, unfortunately the case of many families in Romania. The policy of limiting medical intervention in newborns with Edwards syndrome due to the broad spectrum of severe congenital malformations, severe mental retard and reduced life expectancy is unanimously accepted, but yet difficult to apply from an ethical point of view. That is why very important for both healthcare providers and families to have accurate and detailed knowledge of survival, disease course, and quality of life so that they can make fully informed decisions regarding care of these babies. The particularity of this case is the association of multiple congenital anomalies in a male newborn with trisomy 18, almost all apparata and systems being affected, with the presence of an omphalocele and complete right labiopalatine cleft, which are less frequent at children with trisomy 18.

Morphologic relationship between the cranial base and the mandible in patients with facial asymmetry and mandibular prognathism.

INTRODUCTION: This study was conducted to measure the dimensional changes in the cranial base and the mandible in patients with facial asymmetry and mandibular prognathism, and to examine the morphologic relationship between asymmetries of the cranial base and the mandible. METHODS: The patients were 60 adults with mandibular prognathism, divided into a symmetry group (menton deviation, <2 mm; n = 30) and an asymmetry group (menton deviation, >4 mm; n = 30) according to the degree of menton deviation. Three-dimensional computed tomography scans were obtained with a spiral scanner. Landmarks were designated on the reconstructed 3-dimensional surface models. Linear, angular, and volumetric measurements of the cranial base and mandibular variables were made. RESULTS: In the asymmetry group, the hemi-base, anterior cranial base, and middle cranial base volumes were significantly larger (P <0.01), and crista galli to sphenoid, sphenoid to petrous ridge, anterior clinoid process to petrous ridge, and vomer to petrous ridge lengths were significantly longer (P <0.05) on the nondeviated side than on the deviated side. Menton deviation was significantly correlated with the difference in hemi-base volume, and ramal volume was significantly correlated with the difference in hemi-base and middle cranial base volumes between the nondeviated and deviated sides (P <0.05). CONCLUSIONS: In patients with facial asymmetry and mandibular prognathism, cranial base volume increased on the nondeviated side and was also correlated with mandibular asymmetry.

Three-dimensional virtual operations can facilitate complicated surgical planning for the treatment of patients with jaw deformities associated with facial asymmetry: a case report.

This article describes a case we experienced in which good postsurgical facial profiles were obtained for a patient with jaw deformities associated with facial asymmetry, by implementing surgical planning with SimPlant OMS. Using this method, we conducted LF1 osteotomy, intraoral vertical ramus osteotomy (IVRO), sagittal split ramus osteotomy (SSRO), mandibular constriction and mandibular border genioplasty. Not only did we obtain a class I occlusal relationship, but the complicated surgery also improved the asymmetry of the frontal view, as well as of the profile view, of the patient. The virtual operation using three-dimensional computed tomography (3D-CT) could be especially useful for the treatment of patients with jaw deformities associated with facial asymmetry.

Dysgnathia complex sine holoprosencephaly nor synotia: a case report and discussion of its nosology.

A severe mandibular hypoplasia and microstomy with intraoral anomalies including hypoglossia, fused gums, persistence of buccopharyngeal membrane, and laryngeal hypoplasia were noted in a female newborn with the dysgnathia complex (DC). Additionally, our proposita also presented natal teeth as a probably new finding. These clinical manifestations overlapped with those of the fourth report of hypomandibular faciocranial syndrome (HFS) (31), and given that both lack for craniosynostosis (pathognomonic of HFS), we considered that both represent a subtype of DC proposed as DC sine holoprosencephaly nor synotia (DCSHS). Differential characteristics between the DCSHS, the HFS, and the DC with holoprosencephaly sine synotia are reviewed and additionally, we discussed some aspects about the nosology of the DC.

Combined multisegmental surgical-orthodontic treatment of bialveolar protrusion and chin retrusion with severe facial asymmetry.

LeFort I osteotomy, anterior segmental osteotomy, bilateral sagittal split ramus osteotomy, and genioplasty are frequently used methods for correcting facial deformities. However, in patients with an abnormally shaped maxilla or mandible, more complex surgical techniques or multiple combinations must be considered for improved esthetic results. This article presents a patient with bialveolar protrusion, mandibular prognathism, chin retrusion, a long face, and severe facial asymmetry. A combination of LeFort I asymmetric impaction, anterior segmental osteotomy, and 3-piece segmentation of the maxilla, and bilateral sagittal split ramus osteotomy, anterior segmental osteotomy, genioplasty advancement, and angle shaving in the mandible were conducted simultaneously. In patients with complicated deformities that cannot be classified by simple conventional classification methods, multisegmental osteotomy can be an option for improved esthetic results.

Association between craniofacial asymmetry and unilateral temporomandibular joint sounds in adult patients using 3D-computed tomography.

OBJECTIVES: The purpose of this study was to investigate the possible relationship between unilateral temporomandibular joint (TMJ) sounds and craniofacial asymmetry, using 3D-computed tomography (CT) measurements. SUBJECTS AND METHODS: Forty-one reconstructed 3D-CT models of adult subjects were measured to analyze craniofacial asymmetry. Subjects were divided into two groups depending on the presence (n = 20) or absence (n = 21) of unilateral joint sounds, and the results compared using the Mann-Whitney U-test. To investigate the association between these parameters, the Pearson correlation coefficient was calculated. RESULTS: Asymmetries in the maxillary and mandibular structures were statistically significant (P < 0.05) for subjects with unilateral TMJ sounds and for controls, except in the case of maxillary rotation and mandibular ramus height (P > 0.05). The highest deviations found were frontal and lateral ramal inclination, goniac angle and canting of occlusal plane. CONCLUSIONS: Adult patients with unilateral joint sounds may have skeletal jaw asymmetry and a canted occlusal plane.

Correction of facial asymmetry resulting from hemimandibular hyperplasia: surgical steps to the esthetic result.

Hemimandibular hyperplasia is a facial deformity in which there is an increase in the condyle, neck of the condyle or ramus, and an occlusal cant. Different surgical treatments are proposed in the literature, from simple low or high condylectomy to more complex procedures combining osteotomies in different sites of the mandible. Surgical procedure is defined by the scintigraphic diagnosis of activity or inactivity in the center of condylar growth. The case report describes a 35-year-old female patient with hemimandibular hyperplasia on the left side with inactivity of condylar growth, successfully treated with bilateral sagittal split ramus osteotomy associated with a basilar osteotomy in form of "L" on the affected side. The surgical technique was easily executed, with an improvement in function, aesthetics, and patient satisfaction. Correction of facial asymmetry caused by excessive growth of the mandible using this basilar osteotomy in the form of "L" combined with bilateral sagittal split ramus osteotomy proved to be a relatively simple technique of easy execution with a low risk of nerve damage.