Search

Bilateral Tessier cleft types 3 and 4 are rare and commonly involve the lacrimal drainage system owing to their anatomical location. Such clefts commonly present with associated ocular anomalies and include colobomatous eyelids, hypertelorism, microphthalmia, punctal or canalicular agenesis, and nasolacrimal duct obstruction or exstrophy. The current report presents an 18-month-old baby with bilateral Tessier cleft 3 with a unilateral anophthalmos, symmetrical eyelid colobomas, and lacrimal drainage anomalies. The lacrimal anomalies noted include small lacrimal sac with inferior canaliculus on the right side and upper and lower punctal and canalicular agenesis on the left side. Computed tomographic dacryocystography demonstrated unilateral lacrimal sac and bilateral maldevelopment of the bony nasolacrimal duct.

Objective: To evaluate the complementarity between prenatal ultrasound, computed tomography, and MRI scans for fetuses with Binder phenotype., Methods: We carried out a retrospective study from January 1, 2009, to June 30, 2018, of fetuses with Binder phenotype. Prenatal ultrasound (US) data were collected. A systematic survey of the entire skeleton was performed to look for associated abnormalities such as calcifications, brachytelephalangy, and spinal stenosis. Parents were systematically offered fetal skeletal computed tomography (CT)., Results: Thirteen cases were included. Two cases of perinatal respiratory distress (18%) were observed. Chondrodysplasia punctata was diagnosed from the presence of calcifications, especially of the proximal femoral epiphyses and tarsal bones, in five cases (38%) by US and in 10 cases (83%) by CT. Calcifications of the hyoid bone were detected by CT in three cases (25%) one of which had respiratory distress. Polyhydramnios was associated with the Binder phenotype in four cases (30%) one of which had respiratory distress. One single fetus had combined polyhydramnios and laryngeal calcifications, and he suffered from perinatal respiratory distress., Conclusion: An antenatal diagnosis of Binder phenotype is often associated with chondrodysplasia punctata. We recommend the use of fetal CT as a complement to US in this condition., (© 2019 John Wiley & Sons, Ltd.)

Blue sclera is attributed to a diversity of mechanisms, mostly arising in genetic syndromes and, to a lesser extent, in nongenetic disorders and may occur as a side effect of medication intake. A literature search was conducted to establish a database of blue scleral associations. This article represents the most comprehensive assemblage of etiopathologies coincidental with blue sclera, comprising 66 genetic syndromes, 8 disorders, and 4 pharmacologically induced pigmentations. To increase the knowledge regarding the clinical significance of blue sclera, summaries of the systemic and oral maxillofacial comorbidities are provided. Recognition of the presence of blue sclera is important as it could prompt a timelier and more thorough diagnostic evaluation of possible systemic and dental malformations, potentially improving clinical outcomes., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Objective: To investigate the deformations of temporal bone and mandible combined with congenital aural atresia., Methods: A total of 158 patients with congenital aural atresia were included in the study. The raw CT data of the temporal bone was imported into MIMICS v 12 and threshold dissection, region growing and three-dimensional (3D) calculation were used to calculate 3D models. The 3D characteristics of the temporal bone and upper part of mandible were assessed., Results: The tympanic part of the temporal bone was all undeveloped. Of all the patients included, 14 patients were found to have severe maxillofacial malformations. Among them, 2 cases have floating arch, 4 cases have interrupted arch, 5 cases have mandibular processes hypoplasia and 3 cases have interrupted arch combined with severe maxillary malformation. Ten of the 14 patients were suffered from dysplasia of the mastoid part of the temporal bone as well., Conclusion: Maxillofacial malformations may sometimes coexist with congenital aural atresia. Otolaryngologists should not neglect the coexisted maxillofacial malformations and give timely referral to maxillofacial surgeons., (Copyright © 2017. Published by Elsevier B.V.)

Binder phenotype, or maxillonasal dysostosis, is a distinctive pattern of facial development characterized by a short nose with a flat nasal bridge, an acute nasolabial angle, a short columella, a convex upper lip, and class III malocclusion. We report 3 cases of prenatally diagnosed Binder phenotype associated with perinatal respiratory impairment., (© 2016 by the American Institute of Ultrasound in Medicine.)

Purpose: The present article aimed to review systematically the literature on the relation between facial skeletal structures and temporomandibular joint (TMJ) disorders., Materials and Methods: A systematic search in the dental and medical literature was performed to identify all studies of humans assessing the relation between TMJ disorders and facial morphology. Articles were included based on study design, irrespective of TMJ disorder (eg, disc displacement, osteoarthrosis, or unspecified), skeletal features, diagnostic strategies (e.g., imaging techniques or clinical assessment), and population (eg, demographic features of participants) under investigation. The selected articles were assessed according to a format based on patients, problem, and population, intervention, comparison, and outcome and quality was evaluated based on the Newcastle-Ottawa Scale., Results: Thirty-four articles were included in the review, 27 of which concerned adult samples and 7 concerned adolescent samples. Quality was generally moderate. The articles dealt with the relation between facial morphology and the following TMJ disorders, assessed clinically or by magnetic resonance (MR): disc displacement (n = 20), osteoarthritis or osteoarthrosis (n = 8), and temporomandibular disorder signs and symptoms (n = 6). The different approaches featuring the various investigations and the presence of some potential methodologic biases complicated a summary of the findings. Most studies reported that some features related to the vertical dimension of the face might help distinguish patients with potential TMJ disc displacement or MR-detected signs of osteoarthrosis from those without TMJ disorders., Conclusions: The quality of the available literature is not adequate to provide an evidence base on the topic. Despite the heterogeneity of design and findings of the reviewed articles, it seems reasonable to suggest that skeletal Class II profiles and hyperdivergent growth patterns are likely associated with an increased frequency of TMJ disc displacement and degenerative disorders., (Copyright © 2016 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.)

Obstructive sleep disordered breathing (USDB) is a common diseases which caused by upper airway(UA) occlusion, muscle tone problems and collapse of upper airway etc. The article introduces how to select surgical treatment protocol. First, it is necessary of PSG and upper airway evaluation. Then, it is key to master surgical indications. For the children with hypertrophy of tonsillectomy or adenoidectomy, it may first step of tonsillectomy or adenoidectomy, they needed followed up by orthodontic doctor or orthognathic surgeon for tooth and maxillomandibular malformation. For the adult OSDB patients, there are two method, soft tissue reduction/mass excision around UA or maxillomandibular advancement(MMA), and MMA is recommended to the patients such as failure from UPPP and other surgical treatment, but for severe obesity patients, bariatric surgery is commended, it is very effective for soft tissue reduction around UA and weigh loss. For the OSDB patients with craniaomaxillomandibular deformities, such as craniosynostosis syndrome/micrognathia. Finally, it is important of the UA management for the surgical patients around perioperative period. All in all, it is necessary of the multidisciplinary cooperation for the OSDB patients, surgical treatment is useful method but it is not commend to all OSDB patients.

We present a case of a middle-aged woman who presented with acute onset of non-erosive oligoarthritis and cutaneous lesions. Her laboratory work up revealed mild anaemia with positive antinuclear antibody. Her skin biopsy confirmed the presence of interstitial granulomatous dermatitis. She was treated with a successful trial of non-steroidal anti-inflammatory agents. Interstitial granulomatous dermatitis with arthritis (IGDA), or Ackerman syndrome, is an under-recognised cause of arthritis with dermatitis. This is primarily due to the varied clinical presentation of the skin lesions and the non-specific laboratory findings. Our aim is to highlight the pivotal role of skin biopsy as part of the diagnostic assessment of patients who present with arthritis and concomitant skin lesions., (2015 BMJ Publishing Group Ltd.)

Introduction: In this study, we measured the impact of cone-beam computed tomography (CBCT) on orthodontic diagnosis and treatment planning., Methods: Participant orthodontists shown traditional orthodontic records for 6 patients were asked to provide a diagnostic problem list, a hypothetical treatment plan, and a clinical certainty. They then evaluated a CBCT scan for each patient and noted any changes, confirmations, or enhancements to their diagnosis and treatment plan., Results: The number of diagnosis and treatment plan changes varied widely by patient characteristics. The most frequently reported diagnosis and treatment plan changes occurred in patients with unerupted teeth, severe root resorption, or severe skeletal discrepancies. We found no benefit in terms of changes in treatment plan for patients when the reason for obtaining a CBCT scan was to examine for abnormalities of the temporomandibular joint or airway, or crowding. Orthodontic participants who own CBCT machines or use CBCT scans frequently in practice reported significantly more diagnosis and treatment plan changes and greater confidence after viewing the CBCT scans during the study., Conclusions: The results of this study support obtaining a CBCT scan before orthodontic diagnosis and treatment planning when a patient has an unerupted tooth with delayed eruption or a questionable location, severe root resorption as diagnosed with a periapical or panoramic radiograph, or a severe skeletal discrepancy. We propose that CBCT scans should be ordered only when there is clear, specific, individual clinical justification., (Copyright © 2013 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.)

Objective: To exam the relationship between snoring and morbidities of multiple systems in children., Study Design: Children with snoring were enrolled and divided into primary snorer (PS) group and obstructive sleep apnea hypopnea syndrome (OSAHS) group based on polysomnography. The healthy children served as the control group. The growth parameters, maxillofacial malformations, blood chemistry, electrocardiogram, and echocardiogram were recorded and intelligence testing was performed in the enrolled children who were ≥6 years old., Results: The weight and height were similar in the control group (n = 60) and the PS group (n = 63), but lower in the OSAHS group (n = 89; P < 0.001). Occurrence of adenoidal face and dental malocclusion in the OSAHS and the PS group was significantly higher than that in the control group (P < 0.001). Compared with the control group, the OSAHS group had a lower serum high-density lipoprotein cholesterol level, higher low-density lipoprotein cholesterol level; and a possible higher pulmonary artery pressure based on the echocardiogram (P < 0.001). All the above parameters in the PS group were similar to those in the control group. Full-scale IQ and performance IQ of the OSAHS group was lower (P < 0.001), attention deficits were significantly higher in the OSAHS group (P < 0.001), but were similar in the PS group when compared to the control group., Conclusions: OSAHS in children is associated with delayed growth, maxillofacial malformations, impaired cognitive functions, abnormalities in lipid metabolism, and changes in pulmonary artery pressures. PS children also have higher incidence of maxillofacial malformations but have a normal growth and normal cognitive functions., (Copyright © 2012 Wiley Periodicals, Inc.)

Purpose: We had for objective to assess odontogenic disorders associated to a congenital piriform aperture stenosis and to study their various presentations., Methods: Twelve patients presenting with a congenital piriform aperture stenosis, 1 week to 3 months of age, were retrospectively included from 1998 to 2008. All patients underwent an initial CT scan to evaluate the temporary dental germs., Results: Deciduous dental germs were abnormal in 75% of the cases. Thirty-three percent had a single median maxillary central incisor., Discussion: The concept of solitary median maxillary central incisor syndrome makes for a more pathophysiological approach of this type of disease, with various clinical presentations, corresponding to various levels of severity of a same pathological process., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)

Objectives: The purpose of the present study was to critically evaluate the literature, describe the clinical and radiographic features of HD-SOD (hemimaxillofacial dysplasia/segmental odontomaxillary dysplasia), and describe one new case, involving a 12-year-old boy, with detailed radiological, clinical, and histologic characteristics., Methods: Thirty-six cases published between 1987 and 2010, together with the present case, were evaluated according to criteria that included gender, age, location of the lesion, findings, and symptoms., Results: We found that the lesion is discovered mainly in the first decade of life (71%), and has a male predilection (64%, 23/64). The maxillary alveolar process was affected unilaterally in all cases, with gingival and bone enlargement and facial asymmetry being constant findings. Missing premolars and skin manifestations were found to be common features., Conclusions: New case reports should include clinical, radiographic, and histologic findings; follow-up reports; and treatment protocols to improve dentist and parent information regarding HD., (Copyright © 2012 Elsevier Inc. All rights reserved.)

A 3-month-old male patient presented to the maxillofacial department in Al-Amiri Dental Center, Kuwait, with a facial deformity. There was no family history of any systemic illness or abnormalities nor consanguinity. On examination; the patient had a transverse incomplete facial cleft on the right cheek, the maxilla and the upper lip were duplicated and translocated to the right lower jaw and lip, with all components of mucosa as well as a complete compliment of deciduous teeth. There was unilateral macrosomia as well as cleft of the secondary palate and triple uvulae. The mandible had restricted mobility. Photographs and a Computerized Axial tomogram (CAT scan) were taken and a complete work up to exclude congenital cardiac disease was also done. The surgical approach, and possible future operations were explained in detail and discussed with the parents. Their consent was taken., (Copyright © 2010 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

A girl was born with sclerocornea of the right eye, corneal staphyloma of the left eye and lumbar myelomeningocele. The myelomeningocele was repaired soon after birth. The corneal staphyloma was perforated during infancy. She received keratoplasty and achieved light perception. Her right kidney revealed multicystic dysplasia and was non-functioning at birth. She had neurogenic bladder, and her renal function deteriorated gradually. Peters plus syndrome was diagnosed based on anterior ocular segment anomalies, short stature, developmental delay and characteristic face. Anterior ocular segment anomalies are rare findings, but seem to be occasionally associated with spina bifida and renal anomalies. Myelomeningocele and chronic renal failure in patients with Peters plus syndrome have not been reported to our knowledge.

The aim of this study was to determine the occurrence of oral health impacts among patients with severe malocclusions and dentofacial deformities before treatment. A further aim was to evaluate the effect of gender or the type of malocclusion on the oral impacts. The study comprised 151 adult patients who were referred for orthodontic or surgical-orthodontic treatment to the Oral and Maxillofacial Department, Oulu University Hospital, Finland during the years 2001-2004. The study group consisted of 92 females and 59 males with a mean age of 35.5 years [standard deviation (SD) 11.5 years, range 16-64 years]. A self-completed Oral Health Impact Profile (OHIP)-14 questionnaire was used to measure oral impacts during a 1 month reference period. The prevalence, extent, and severity scores were calculated from the OHIP-14. Malocclusions were registered at clinical examination. The prevalence and mean extent and severity scores were compared among malocclusion groups and between genders. Statistical significance was evaluated with Mann-Whitney, Kruskall-Wallis, Chi-squared, and Fisher's exact tests. The prevalence of oral impacts perceived fairly or very often was 70.2 per cent. The mean severity and extent scores were 17.2 (SD 10.5, range 0-45) and 2.5 (SD 2.6, range 0-10), respectively. Physical pain as well as psychological discomfort and disability were the most commonly perceived oral impacts. Being self-conscious, feeling tense, having difficulties in relaxing, and being somewhat irritable with other people were more common in females than in males. No differences were observed in oral impacts among the malocclusion groups. Compared with a 'normal' population, patients with severe malocclusions report high levels of oral impacts. Females reported oral impacts more often than males.

Introduction: There have been conflicting viewpoints in the literature regarding the effects of orthognathic treatment on temporomandibular disorders (TMD). A systematic review was conducted to determine the percentage of orthognathic patients with TMD, establish the range of signs and symptoms, and follow patients longitudinally through treatment for any changes in signs and symptoms., Methods: Part 1 of this 2-part article described the methodology of this review, with a narrative analysis of the study characteristics and the TMD classification methods. Part 2 describes the percentage of patients suffering from TMD and the signs and symptoms reported. Meta-analyses were conducted on data from clinically similar studies., Results: Pain decreased after surgery for both self-reported symptoms and clinically diagnosed pain on palpation. However, postsurgical results were more varied for joint sounds. The percentage of patients with clicking had a tendency to decrease postsurgery, but improvements in crepitus were questionable. The results from all meta-analyses in this review were subject to considerable statistical heterogeneity, and it was not possible to draw strong inferences relating to the percentage of orthognathic surgery patients with TMD with any degree of certainty., Conclusions: Although orthognathic surgery should not be advocated solely for treating TMD, patients having orthognathic treatment for correction of their dentofacial deformities and who are also suffering from TMD appear more likely to see improvement in their signs and symptoms than deterioration.

Objective: Hutchinson-Gilford progeria syndrome (HGPS) is a rare early-onset accelerated senescence syndrome. In HGPS, a recently identified de novo dominant mutation of the lamin A gene (LMNA) produces abnormal lamin A, resulting in compromised nuclear membrane integrity. Clinical features include sclerotic skin, cardiovascular and bone abnormalities, and marked growth retardation. Craniofacial features include 'bird-like' facies, alopecia, craniofacial disproportion, and dental crowding. Our prospective study describes dental, oral soft tissue, and craniofacial bone features in HGPS., Methods: Fifteen patients with confirmed p.G608G LMNA mutation (1-17 years, seven males, eight females) received comprehensive oral evaluations. Anomalies of oral soft tissue, gnathic bones, and dentition were identified., Results: Radiographic findings included hypodontia (n = 7), dysmorphic teeth (n = 5), steep mandibular angles (n = 11), and thin basal bone (n = 11). Soft tissue findings included ogival palatal arch (n = 8), median sagittal palatal fissure (n = 7), and ankyloglossia (n = 7). Calculated dental ages (9 months to 11 years 2 months) were significantly lower than chronological ages (1 year 6 months to 17 years 8 months) (P = 0.002). Eleven children manifested a shorter mandibular body, anterior/posterior cranial base and ramus, but a larger gonial angle, compared to age/gender/race norms., Conclusion: Novel oral-craniofacial phenotypes and quantification of previously reported features are presented. Our findings expand the HGPS phenotype and provide additional insight into the complex pathogenesis of HGPS.

Introduction: Our group, along with others, has previously reported associations between moyamoya syndrome and a number of genetic disorders, including Down syndrome, Seckel dwarfism, sickle cell disease, and neurofibromatosis type I. Here we present the first reported case of a patient with the concomitant diagnosis of moyamoya and Robinow syndrome - a rare genetic disorder characterized by fetal-like faces, mesomelic shortening of the forearms, and developmental delay. The clinical, radiographic, and surgical findings are described, as well as the importance of this association., Methods: Case report., Results: A 13-year-old girl with Robinow syndrome presented with multiple transient ischemic attacks consisting of speech arrest and generalized weakness. Evaluation revealed probable bilateral moyamoya syndrome. Initially, she was treated conservatively due to the rarity of her symptoms and relatively unremarkable angiographic findings. However, she ultimately had progression of her disease both clinically and radiographically, leading to surgical management. She underwent staged bilateral pial synangiosis without complication and has done well subsequently., Conclusion: The potential difficulty of detecting symptoms related to cerebral ischemia in the Robinow's population - where cognitive impairment may obscure initial neurologic symptoms - can result in delayed diagnosis and treatment. Given the excellent outcomes of moyamoya patients when treated prior to the development of fixed neurologic deficits, case reports such as this and identifying syndromic associations serve to highlight conditions that may result in improved patient outcomes through earlier diagnosis and treatment. The clinical and radiographic features of moyamoya syndrome associated with Robinow syndrome seem comparable to those of primary moyamoya disease. The presence of moyamoya syndrome should be considered in the evaluation of patients with Robinow syndrome who present with transient ischemic attack-like symptoms.

Binder syndrome or maxillo-nasal dysplasia (nasomaxillary hypoplasia) is an uncommon developmental anomaly affecting primarily the anterior part of the maxilla and nasal complex. A 4-year-old boy with maxillo-nasal dysplasia (Binder's syndrome), featuring maxillary hypoplasia and relative mandibular prognathism, combined with acute leucosis was presented. We review the literature and describe how three-dimensional CT scanning was used to evaluate the facial morphology. The principal features, diagnosis and management of the syndrome are discussed.

Maxillary duplication is a rare congenital anomaly that occurs in the jaw/mouth area. It is generally regarded as sporadic in nature. Total or subtotal soft palate reconstruction for oropharyngeal defects, which include post-surgical and congenital defects, presents a difficult surgical challenge. A maxillary duplication in which the soft palate is reconstructed using a vascularized forearm flap is described. The velopharyngeal insufficiency in the present case is caused by the almost complete deficiency of the soft palate, suggesting that a conventional pharyngeal flap operation with localized mucosal myocutaneous flaps would not produce favorable results in terms of postoperative contractions in the pharyngeal flaps. In such cases, the reconstruction of the soft palate using vascularized free forearm flaps, guided by flexibility regarding the size and adequate thickness of the flaps, may be useful.

The relations between temporomandibular dysfunctions (TMDs) and maxillomandibular malformations requiring orthognathic surgery for correction have been the object of different studies in medical literature. The authors have performed a bibliographic revision on this issue to show the state of the art. This study, an analysis of the literature of the last 20 years, is chronologically presented. It analyzes the prevalence of TMD in patients with different types of maxillomandibular deformities undergoing orthognathic surgery and the TMD changes that occurred after an orthognathic surgical treatment. Medical studies reported in literature show a high variation of results related both to the prevalence of TMD in patients with maxillomandibular deformities and to the changes ensuing from an orthognathic surgical treatment. It has been difficult to compare the different studies because of the different methods used to individuate TMD signs and symptoms in the groups of patients analyzed, as well as the different types of orthognathic surgery performed and the specific TMD treatments used when required. It is concluded that despite the different results provided by the various studies, a certain prevalence of TMD is always present in patients with maxillomandibular deformity. This can be assumed to be within a correlation between dysgnathia and TMDs, and it asserts the necessity to treat patients who have maxillomandibular deformities and TMD by performing a specific treatment of TMD.

This article describes the surgical and orthodontic treatment of a girl with facial deformities and functional involvement. The left temporomandibular joint was ankylosed, and the lower third of the face was markedly deficient, with mandibular retrusion and severe laterognathism to the left side. Mouth-opening was limited, and the patient had problems speaking and chewing. Two surgical procedures had been performed previously at another institution. We treated the patient with condylar surgery while she was still growing, followed by orthodontic treatment and orthognathic surgery after growth was complete. Twelve-year follow-up records are presented.

Schwartz-Jampel syndrome (SJS) is a rare, inherited disorder defined by myotonia, skeletal malformations, muscular stiffness, and growth retardation. The clinical signs and symptoms of SJS are seen in the maxillofacial region. The combination of skeletal and muscular abnormalities predisposes affected individuals to a number of primary and secondary orodental manifestations. Although several studies have discussed the clinical features of SJS from a medical perspective, few reports have addressed the oral findings or dental treatment in children and adolescents with the disorder. This article reviews the dental manifestations and impairments of Schwartz-Jampel syndrome. The case histories of two siblings diagnosed with this disorder are described as well as their dental care.

Coffin-Lowry Syndrome is characterized by mental retardation, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital hypertelorism, anteverted nares, and a prominent frontal region. This inherited disorder is x-linked and is genetically mapped to the Xp22.2 chromosomal region. This report presents the dental findings of three male members of the same family: an older brother and younger identical twins; all three were first examined at age 10. The father's family came from North Africa and the mother's from Eastern Europe. In addition to the reported typical characteristics of Coffin-Lowry Syndrome, a number of specific dental findings were found in all of the brothers, namely, maxillary protrusion, open bite, two-year retardation in age of eruption, agenesis of the permanent mandibular central incisors in all of the brothers, and a marked oligodontia in the oldest. Despite difficulties in management, the dental treatment for caries and gingivitis could be completed on the brothers without sedation.

Objective: The aims of this study were to characterize the symmetrical features of patients with facial deformities and to suggest a classification system for facial asymmetry based on 3-dimensional-computed tomography (3D-CT) evaluation., Study Design: Preoperative CT images were investigated for 49 patients with maxillofacial deformities. Asymmetry indices were calculated for some landmarks in the maxilla, mandibular body and the mandibular ramus regions., Results: Asymmetry was observed most frequently in the mandibular body region. The subjects were divided into 3 groups. Subjects without any asymmetry in the 3 regions were classified as Group I (44.9%). Groups II or III were defined for subjects without or with maxillary region asymmetry, respectively, and they were subcategorized. In Group IIA (8.2%), asymmetry was shown solely in the mandibular body region, and in Group IIB (18.4%), additional asymmetry was shown in the mandibular ramus region. Group IIIA (6.1%) showed asymmetry only in the maxillary region, and Group IIIB (22.4%) showed asymmetry in all 3 regions., Conclusion: The 3D-CT classification for facial asymmetry has the potential to replace the conventional cephalometric classification.

Cranium bifidum occultum is a rare skull ossification disorder referred to as the Catlin mark characterized by ossification defects in the parietal bones. Evidence suggests that this condition has a strong genetic heterogenicity. It is believed that, as calvarial growth continues, ossification in parietal bones fills these defects, and they can remain as parietal foramina on either side of the sagittal suture. During the conversion phase of cranium bifidum to the persistent parietal foramen, there will be periods when the brain is unprotected because of the delay in the ossification of the parietal bones. This report describes cranium bifidum occultum diagnosed as an incidental finding in a 14-year-old boy who initially had large bilateral unossified parietal bones and many congenital abnormalities. The patient underwent various surgical procedures over 6 years for the correction of cleft lip and palate. With craniofacial corrections and orthodontic treatment, the patient now has stable dentition and a firm palate with most of the parietal bones ossified. Cranioplasty was not recommended by his family physician after consultation with a neurosurgeon. Orthodontists should be familiar with this genetic abnormality because it causes delay in parietal bone ossification, and they should be able to distinguish between anatomic parietal foramina and enlarged parietal foramina (persistent unossified areas of cranium bifidum occultum), especially when craniofacial abnormalities are noticed.

Children with CHARGE syndrome commonly experience feeding and swallowing problems. Difficulties may be associated with congenital structural anomalies, motor impairment, and/or oral sensory impairment. For many children with CHARGE syndrome, the introduction of functional oral feeding is delayed and there are often long-term feeding complications. Oral aversion or defensiveness is a frequent serious issue; however, it is uncertain whether this is a primary sensory disorder or secondary to delayed and/or negative oral sensory and feeding experiences. This article examines in detail the early oral sensory and feeding experiences of five children with CHARGE syndrome, through a review of medical records and caregiver questionnaires. Findings indicate variable early oral sensory experiences in this group of children, with all of the children having some difficulty or delay in the development of oral feeding and swallowing. The nature of these difficulties and the potential contributory factors are discussed.

Incorrectly produced speech sounds, the presence of dentofacial alterations and acquired functional adaptations may be due to a short and inadequate lingual frenum. When frenectomy is indicated, it should be performed as early as possible to prevent functional alterations. This study presents a literature review on correct lingual positioning in relation to orthodontic and phonetic function as well as an assessment of 15 patients who underwent frenectomy utilizing the carbon dioxide laser. The results demonstrated that this technique is safe, effective and perfect for use in young children and can be performed in an outpatient unit.

Purpose: To propose a classification of the different lingual frenulum and to relate them to speech disorders., Methods: We evaluated 1402 patients' frenulum with an age range of 5 years 8 months to 62 years 10 months between 1978 and 2002. Pictures were taken of the altered frenulum. Measures of maximal mouth opening, with and without tongue suction, were taken with a sliding caliper. Speech samples were also taken. Frenulum were then classified as normal; short; with anterior insertion, and short with anterior insertion., Results: From the 1402 patients evaluated, 127 (9%) presented with an altered frenulum insertion. For this study we considered only those with short or with anterior insertion. For those who had an altered frenulum, 62 (48.81%) presented with speech disorders. The more frequent speech disorders were: omission and substitution of /r/; {R}, and consonant clusters with /r/, and of /s/ and /z/. Frontal and lateral lisps also occurred. The frenulum of 21 patients was classified as short and of these, 12 patients (57%) presented with speech disorders. Of the 106 patients with anterior insertion, 50 (47.2%) presented with a speech disorder. After statistical analyses the relation between altered frenulum and speech disorders was considered significant with p<0.001., Conclusion: The lingual frenulum was classified as normal, short and with anterior insertion. An altered frenulum may predispose the individual to exhibit an accompanying speech disorder.

Objective: The aim of this study was to investigate cases of difficult intubation in pediatric cardiac surgical patients and to evaluate the importance of associated congenital abnormalities., Design: Retrospective analysis., Setting: Departments of Anesthesiology and Pediatric Cardiovascular Surgery of a tertiary university hospital., Participants: All children undergoing congenital heart surgery., Interventions: Patients who had difficult intubations according to their anesthetic charts were further evaluated from hospital files for demographic characteristics, associated congenital abnormalities, and perioperative airway and/or respiratory complications., Measurements and Main Results: A total of 1,278 pediatric patients with congenital heart disease were operated on from January 1999 to July 2002. Difficult intubation was encountered in 16 cases (1.25%). Two of these were newborns, 11 were infants, and 3 were in the pediatric age group. Anterior larynx was the most common reason for difficult intubation (7 cases, 43.7%). There were associated syndromes and/or other congenital abnormalities in 8 children (50%)., Conclusion: The likelihood of difficult intubation during pediatric cardiac surgery, especially in cases with other congenital pathologies should be kept in mind, and the anesthetic approach must be planned accordingly.

A case of Angelman syndrome (AS) with thelarche variant in a 4.5-year-old girl is presented. Clinical suspicion of AS was raised at the age of 15 months when she presented with mental retardation and epilepsy, absence of speech, ataxic gait with jerky movements, hyperactivity and paroxysmal episodes of laughter. Moreover, she had facial dysmorphic features such as microbrachycephaly, mid-facial hypoplasia, macrostomia and prominent mandible. Dinucleotide repeat polymorphism (DNRP) analysis, identified absence of maternal alleles at D15S543, D15S113 and GABRB3 loci, findings consistent with AS. Studies on CYP19 locus (outside the 15q11-13 region) revealed the presence of two different alleles, thus excluding the possibility of paternal isodisomy of chromosome 15 in this patient. Breast development at the age of 4.5 years, accompanied by accelerated growth velocity and bone age suggested the diagnosis of variant thelarche. This is the second case of AS with sexual precocity reported and whether this combination is a coincidence or not remains to be clarified.

Hemimaxillofacial dysplasia and segmental odontomaxillary dysplasia appear to be the same syndrome, having the common features of unilateral abnormalities of bone, teeth, gums, and skin. Oral manifestations are the hallmark of this condition. Those affected are generally recognized in childhood and may have partial anodontia, abnormal spacing of the teeth, delayed eruption, and gingival thickening of the affected segment. Reported cutaneous manifestations include facial asymmetry, Becker's nevus, "hairy nevus," lip hypopigmentation, discontinuity of the vermilion border, depression of the cheek, and erythema. The oral lesions do not appear to be progressive. We describe a child with features consistent with hemimaxillofacial dysplasia/segmental odontomaxillary dysplasia. Findings of a biopsy specimen from the cheek confirmed the presence of a Becker's nevus. Cutaneous findings reported in the previous 31 cases are reviewed and summarized. The acronym HATS (hemimaxillary enlargement, asymmetry of the face, tooth abnormalities, and skin findings) is introduced to reflect the spectrum of abnormalities in bone, teeth, and skin that may be seen in this developmental disorder.

Oral diseases may affect general health and many systemic disorders have oral manifestations and implications for dental treatment. This article reviews examples of the oral manifestations of systemic diseases, including oral cancer, diabetes mellitus, and infection from HIV. In addition, the plausible link between periconceptional use of folic acid by the mother and the risk of facial clefts is reviewed. The possible associations between oral infections, specifically periodontal diseases, and both cardiovascular disease and the delivery of preterm low birthweight infants also are reviewed. These and other associations present challenges to dentists, who must evaluate the scientific evidence supporting the associations or alleged causality and select effective treatment options. Both of these challenges require in-depth knowledge of the scientific method, criteria to establish causality, and evaluation of the merit of possible treatment options; in turn, these requirements identify dentists as medical professionals who utilize prevention as the first option in health care, use oral tissues and saliva to diagnose systemic diseases, rely on medical facilities to order laboratory tests, and diagnose and treat patients in close collaboration with their medical colleagues.

A case of congenital absence of the nasal columella accompanying a facial hemangioma is presented. The nose is an important aesthetic unit of the face, and its projection is mainly supported by the columella. The etiology of the absent columella is unclear, and the clinical feature is rare. Reconstruction of the columella remains a challenging problem in plastic surgery, and numerous techniques have been described. The authors discuss several techniques aimed at the correction of the problem and describe a method of reconstruction of the absent nasal columella that was used in the case reported.

Tessier III clefts represent one of the most difficult and challenging malformations of the face to repair. Ectropion caused by a Tessier III cleft may be secondary to a vertical loss of both the anterior and posterior lamellae of the lower eyelids.A composite Z plasty to treat recurrence of cicatricial ectropion of the lower eyelids in Tessier III cleft is described. This is not only a technically easy and effective surgical method but also has a short operation time. To the best of the authors' knowledge, this is the first report of the application of a composite Z plasty in the successful treatment of ectropion.

The aim of this study was to apply one-third-octave analysis for measuring an acoustic correlate of hypernasality in the speech of adults with a range of aetiologies (dysarthria, maxillectomy and cleft palate). Subjects included 12 speakers with hypernasality and 12 normal controls. The speech material was the vowel /i/ segmented from two Cantonese single words produced by each speaker. The results showed that speakers with hypernasality had significantly higher energy level for the one-third-octave bands centred at 630, 800 and 1000 Hz, and significantly lower amplitude for the band centred at 2500 Hz than speakers with normal resonance. These results are in general agreement with past findings about nasalization of vowels. This study showed that one-third-octave analysis has high intrajudge reliability and is applicable to the speech of adults with hypernasality due to different etiologies.

Purpose: We sought to evaluate the effects of orthognathic surgery on temporomandibular joint (TMJ) dysfunction in patients with known presurgical TMJ internal derangement who underwent double-jaw surgery for the treatment of dentofacial deformities., Patients and Methods: Treatment records of 25 patients with magnetic resonance imaging and clinical verification of preoperative TMJ articular disc displacement who underwent double-jaw surgery only were retrospectively evaluated, with an average follow-up of 2.2 years. Signs and symptoms of TMJ dysfunction, including pain, range of mandibular motion, and presence/absence of TMJ sounds, were subjectively (visual analog scales) and objectively evaluated at presurgery (T1), immediately postsurgery (T2), and at longest follow-up (T3). Surgical change (T2-T1) and long-term stability of results (T3-T2) were calculated using the superimposition of lateral cephalometric and tomographic tracings., Results: Presurgery, 16% of the patients had only TMJ pain, 64% had only TMJ sounds, and 20% had both TMJ pain and sounds. Postsurgery, 24% of the patients had only TMJ pain, 16% had only TMJ sounds, and 60% has both TMJ pain and sounds. Thus, presurgery 36% of the patients had TMJ pain, and postsurgery, 84% had pain. Average visual analog scale pain scores were significantly higher postsurgery and none of the patients with presurgery TMJ pain had relief of pain postsurgery. In addition, 6 patients (24%) developed condylar resorption postsurgically, resulting in the development of Class II open bite malocclusion., Conclusions: Patients with preexisting TMJ dysfunction undergoing orthognathic surgery, particularly mandibular advancement, are likely to have significant worsening of the TMJ dysfunction postsurgery. TMJ dysfunction must be closely evaluated, treated if necessary, and monitored in the orthognathic surgery patient., (Copyright 2003 American Association of Oral and Maxillofacial Surgeons J Oral Maxillofac Surg 61:655-660, 2003)

A case of arthrogryposis multiplex congenita that affected a patient's temporomandibular joint is described. Preoperatively, the patient's interincisal opening was limited to 9 mm. Elective surgery was performed, which consisted of bilateral coronoidotomies, right and left meninscectomies, capsular release, and lateral pterygoid myotomies. Physical therapy was initiated postoperatively. Eighteen weeks after the surgery, the patient was able to open 18 mm and force open to 20 mm. The patient also noted significant improvement in speech and jaw function in the postoperative period.

The objective of this investigation was to examine the dentofacial features of a group of patients with hypodontia, in particular assessing whether cephalometric analysis confirmed the clinical assumption of a reduced lower face height, and to determine the relationship of these facial features with different numbers of missing teeth. It took the form of a cephalometric study, undertaken in a dedicated Dental Hospital clinic for patients with hypodontia. The study group comprised 59 patients seen on the Hypodontia Clinic: 32 females, 27 males, mean age 13.1+/-3.1 years (range 6-23 years). The average number of missing teeth was 7 (SD 5), ranging from 1 to 21. The mean SNA, SNB, and MMA angles were within normal limits, but there was a statistically significant reduction in the MMA when more than one tooth type was missing (P = 0.007) and the ANB angle decreased as the number of missing tooth types increased (P = 0.034). The mean values for the whole sample were within the normal range and did not demonstrate any feature specific to the group, but patients with more severe hypodontia showed tendencies to a Class III skeletal relationship and a reduced maxillary-mandibular planes angle.

Craniofacial clefts are very rare and manifest in a variety of patterns. Tessier classified these clefts in 1973 and numbered them 0 to 14. Tessier No. 4 Facial cleft is a rare variant of craniofacial cleft. Not more than 50 cases are reported in world literature, amongst which only 5 cases are true bilateral in nature. However, combinations of two different variants are not very uncommon. A case of male Indian child aged 4 years with a true bilateral Tessier No. 4 Facial cleft is reported. He also had anophthalmos of the left eye. This is probably the first case in which true bilateral Tessier No. 4 Facial cleft with anophthalmos of one eye is noticed.