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BACKGROUND Lateral facial clefts are atypical with a low incidence in the facial cleft spectrum. With the development of ultrasonography (US) prenatal screening, such facial malformations can be detected and diagnosed prenatally rather than at birth. Although three-dimensional US (3DUS) can render the fetus' face via 3D reconstruction, the 3D images are displayed on two-dimensional screens without field depth, which impedes the understanding of untrained individuals. In contrast, a 3D-printed model of the fetus' face helps both parents and doctors develop a more comprehensive understanding of the facial malformation by creating more interactive aspects. Herein, we present an isolated lateral facial cleft case that was diagnosed via US combined with a 3D-printed model. CASE SUMMARY A 31-year-old G2P1 patient presented for routine prenatal screening at the 22nd wk of gestation. The coronal nostril-lip section of two-dimensional US (2DUS) demonstrated that the fetus' bilateral oral commissures were asymmetrical, and left oral commissure was abnormally wide. The left oblique-coronal section showed a cleft at the left oral commissure which extended to the left cheek. The results of 3DUS confirmed the cleft. Furthermore, we created a model of the fetal face using 3D printing technology, which clearly presented facial malformations. The fetus was diagnosed with a left lateral facial cleft, which was categorized as a No. 7 facial cleft according to the Tessier facial cleft classification. The parents terminated the pregnancy at the 24th wk of gestation after parental counseling. CONCLUSION In the diagnostic course of the current case, in addition to the traditional application of 2D and 3DUS, we created a 3D-printed model of the fetus, which enhanced diagnostic evidence, benefited the education of junior doctors, improved parental counseling, and had the potential to guide surgical planning.

Nine individual Alouatta caraya and Sapajus cay displaying facial malformations were observed across three sites in Paraguay. Six had cleft lip (with or without cleft palate), and three had malformations of the lower lip. This is the first record of cleft lip and/or palate in the genus Alouatta.

The traditional treatment and prophylaxis of congenital facial malformations in children takes into account the results of wellknown instrumental research methods such as photometric facial analysis, orthopantomography, lateral teleradiography of the head, diagnostic models of jaws. Modern removable and non-removable appliances (functional and mechanical) are used in the treatment. At the same time, the functional effect involves relieving the muscle tension in the maxillofacial region and neck using the techniques of myofascial, segment-reflex massage of the cervical-collar zone and the palate, reliesing the tongue-root tension. To assess the effectiveness of restoring the myodynamic balance of the muscles of maxillofacial area, it is necessary to develop modern diagnostic methods. Our clinical experience shows the possibility of determining microsensory changes in the parameters of the head and neck region using non-invasive nano-, micro- and fiber-optic diagnostic and rehabilitation technologies. The developed diagnostic methods are safe for the patient and allow obtaining reliable research results. An interdisciplinary approach will help to improve the rehabilitation of children with congenital facial malformations. Key words: cleft lip and palate, diagnosis, treatment, interdisciplinary approach, children

Hemifacial microsomia involves a broad spectrum of facial malformations of varying severity. Prenatal diagnosis rarely occurs and is usually related to severe cases or associated with other body malformations. We present a case of severe hemifacial microsomia with multiple gastrointestinal and cerebral malformations. La macrosomía hemifacial involucra un amplio espectro de malformaciones faciales de diversa severidad. El diagnóstico prenatal es hecho excepcionalmente y habitualmente está relacionado a casos severos o con asociación a otras malformaciones corporales. Presentamos un caso de macrosomía hemifacial severa con malformaciones gastrointestinales múltiples y cerebrales.

The facial malformations of Crouzon syndrome involve the entire cranio-orbito-zygomatic region. The detailed sequence of changes in orbit, zygoma, and maxilla over time, the mutual influence among these three anatomical structures, and their relationship with the cranial base were studied to determine the sequence and timing of deformity. Preoperative CT scans of 36 patients with Crouzon syndrome (mean age 10.84±14.70years; 14 male, 22 female) and CT scans of 54 control subjects (mean age 8.53±13.22years; 29 male, 25 female) were divided into five subgroups by age: 0-6 months, 6 months-2 years, 2-6 years, 6-18 years, and 18-62 years. Craniofacial morphometric cephalometrics were analyzed using Materialise software. Crouzon orbit anteroposterior length was shorter before 6 months (P=0.021) and remained shorter into adulthood (P

Here, we explore the effects of prenatal alcohol exposure (PAE) in adolescence. We investigated associations between meconium ethyl glucoronide (EtG) and facial malformation. For 129 children (66/63 male/female, M = 13.3, SD = 0.32, 12–14 years), PAE was implemented by newborn meconium EtG and maternal self-reports during the third trimester. Cognitive development was operationalized by standardized scores (WISC V). The EtG cut-off values were set at ≥10 ng/g (n = 32, 24.8% EtG10+) and ≥112 ng/g (n = 20, 15.5% EtG112+). The craniofacial shape was measured using FAS Facial Photographic Analysis Software. EtG10+− and EtG112+-affected children exhibited a shorter palpebral fissure length (p = 0.031/p = 0.055). Lip circularity was smaller in EtG112+-affected children (p = 0.026). Maternal self-reports were not associated (p &gt, 0.164). Lip circularity correlated with fluid reasoning (EtG10+ p = 0.031, EtG112+ p = 0.298) and working memory (EtG10+ p = 0.084, EtG112+ p = 0.144). The present study demonstrates visible effects of the facial phenotype in exposed adolescents. Facial malformation was associated with a child’s cognitive performance in the alcohol-exposed group. The EtG biomarker was a better predictor than maternal self-reports.

La cultura Moche se desarrolló entre los años 200 y 850 d. C. en la costa norte del Perú. Sus vasijas de cerámica presentan un gran nivel de detalle, alto grado de realismo y se ha podido identificar distintas malformaciones físicas en sus representaciones. Se presenta el caso del cerámico C-00122 del Museo de Historia Natural y Cultural de la Universidad Privada Antenor Orrego (MHNC-UPAO), con un cuadro de desorden esquelético asociado a malformaciones faciales, además se plantean una serie de posibles diagnósticos etiológicos.

BACKGROUND The purposes of this study were to report autologous free fat grafting as the workhorse procedure to augment the facial soft-tissue envelope and restore facial contour symmetry of patients with asymmetric facial malformations; to detail the SOBRAPAR Hospital algorithm for soft-tissue reconstruction of patients with facial contour asymmetry; and to assess facial symmetry after fat grafting. METHODS A retrospective analysis of consecutive patients (n = 178) who underwent fat grafting to restore the facial contour symmetry according to the SOBRAPAR Hospital algorithm between 2009 and 2016 was conducted. Computerized photogrammetric quantitative and qualitative facial symmetry analyses were performed. RESULTS There were significant (all P

Introduction. Critical review of the available medical scientific sources demonstrates that despite the wide range of advantages, photopolymer composite materials have certain disadvantages. The main of those are contraction during polymerization and incomplete polymerization of the filling volume. These disadvantages cause the crevice between the direct restoration and the tooth wall, the possible discoloration can reduce tooth hardness. Some researchers recommend the application of inlays in order to prevent complications while restoring caries cavities in posterior teeth. Complete polymerization and reliable adjacency to dental tissues ensure sustainability of indirect photopolymer restoration and prevent secondary caries in restored areas. Objective. The study is aimed at raising the effectiveness of dental treatment by clinical evaluation of the quality of direct and indirect restorations made from composite materials. Methods and Materials. In order to conduct comparative clinical evaluation 90 patients with defects of coronal part of lateral teeth, aged 19-54 have been examined, who have orthognathic occlusion, don’t have dental and facial malformations or muscular and joint dysfunctions. They underwent 189 restorations of lateral teeth with cavities of O, MO, OD, MOD types due to medium or severe caries or because of dissatisfying condition of the previously inserted fillings. The patients were divided into two groups according to the method of treatment. The I (basic) group included 42 patients, who underwent 76 indirect restorations for reconstructing the defects of teeth crowns. The II (test) group included 54 patients, who underwent 113 direct restorations for reconstructing the defects of teeth crowns. Each group was subdivided into two subgroups. The patients who underwent 38 indirect restorations with photopolymer composite material Filtek Z 250 (3M ESPE) were placed in the subgroup I A, the patients who underwent 38 indirect restorations with material Charisma (Heraeus Kulzer) were placed in the subgroup I B. The patients who underwent 57 direct restorations with photopolymer composite material Filtek Z 250 (3M ESPE) were placed in the subgroup II A, the patients who underwent 56 direct restorations with material Charisma (Heraeus Kulzer) were placed in the subgroup II B. Clinical efficiency of both direct and indirect restorations was evaluated immediately after their application and then after 12 and 24 months with the help of visual and instrumental examination. When secondary caries was suspected, the target X-rays were taken with Heliodent Vario (Sirona). The evaluation was conducted according to the Ryge criteria (1998), approved by USPHS (United States Public Health Service). They include the following indicators: anatomic contour, marginal integrity and marginal coloration, secondary caries, surface texture, preservation of the restoration, restoration fracture, crevice at the edge of restoration, restoration abrasion, tooth fracture, no approximal adjacency, overhanging restoration, localized gingivitis. Results. The comparative analysis of the clinical efficiency of lateral teeth restorations made from photopolymer materials under study revealed significantly higher quality of indirect restorations (composite inlays), which demonstrated good clinical results even in long-term perspective. Only 5,3% of patients with indirect restorations (with both Filtek Z 250 and Charisma) underwent partial restoration in order to prevent further destruction. By contrast, the patients with direct restorations required the partial restoration in 7% with Filtek Z 250 and 8,9% with Charisma and needed immediate replacement of fillings in 10,5% and 17,8% correspondingly.

Orofacial clefts are facial malformations caused by the improper development of the lips and palate. Many genetic and epigenetic molecules have been involved in the mechanisms of orofacial clefts, one of which are miRNAs. This systematic review aimed to identify miRNAs associated to non-syndromic orofacial clefts in humans. After applying a series of criteria, four studies were selected for analysis. In total, one hundred miRNAs were observed in the literature, of which 57 were reported as upregulated and 43 as downregulated in all orofacial cleft classifications. Moreover, nine miRNAs were differentially expressed only in cleft palate patients, which might suggest distinct regulatory mechanisms for the etiology of cleft lips and palates. We suggest broader population sampling in order to include diverse ethnic groups in the future, as well as analyses toward identifying miRNA target genes and pathways. We highlight the need for experimental validation and of these results to allow further translational approaches and clinical applications.

Johanson-Blizzard syndrome (JBS) is considered as an infrequent, but clinically easily recognizable autosomal recessive entity by the pathognomonic combination of congenital exocrine pancreatic insufficiency and hypoplastic alae nasi, in addition to other distinctive findings such as scalp defects, hypothyroidism, and rectourogenital malformations. There are few reports of patients with JBS in association with facial clefting, referring all to types 2 to 6 of Tessier's classification that can be characterized properly as oblique facial clefts (OFCs). We describe the clinical aspects in four patients with JBS and extensive OFCs. In all of them, the diagnosis of JBS was confirmed by the demonstration of homozygous or compound-heterozygous mutations in the UBR1 gene. Additionally, we review three previously reported cases of JBS with OFCs. Taking into account a number of approximately 100 individuals affected by JBS that have been published in the literature we estimate that the frequency of OFCs in JBS is between 5% and 10%. This report emphasizes that extensive OFCs may be the severe end of the spectrum of facial malformations occurring in JBS. No obvious genotype phenotype correlation could be identified within this cohort. Thus, UBR1 should be included within the list of contributory genes of OFCs, although the exact mechanism remains unknown. © 2016 Wiley Periodicals, Inc.

Holoprosencephaly (HPE) sequence is a rare spectrum of cerebral and facial malformations resulting from incomplete division of embryonic prosencephalon into diencephalon and telencephalon. De Meyer classified three ranges in order of in- creasing severity: lobar, semilobar and alobar HPE. A subtype called middle inter-hemispheric fissure variant has also been described. Arnold-Chiari III malformation is extremely rare and comprises of occipital encephalocele and associated cerebellar and brain stem abnormalities. This case report presents a male infant with lobar HPE and Arnold-Chiari III malformation without any facial defects and chromosomal abnormalities.

Facial malformations have great importance in fetal morphology because these are relatively frequent and may be associated with central nervous system malformations. Also, they participate in numerous genetic diseases for which they work as initial markers (otopalatodigital syndrome, for example). Of this group of pathological conditions, facial clefts and cleft lips are the most frequent.

The authors describe a case of Cowden´s syndrome in a female patient with classic cutaneous lesions, plus papillomatous lesions in the gastrointestinal tract and a previous history of thyroid carcinoma. Mucocutaneous lesions occur in 90% of Cowden's syndrome cases and are characterized by facial trichilemmomas, oral mucosal papillomas and benign acral keratoses. Sites of extracutaneous involvement include: the thyroid, gastrointestinal tract, breast and endometrial tissue. There is risk of malignancies in these organs and they need to be monitored with imaging tests. The early diagnosis of the syndrome by a dermatologist through mucocutaneous lesions enables the investigation and diagnosis of extracutaneous involvement.

Robinow syndrome, also known as fetal face syndrome, is a rare genetically heterogeneous condition characterized mainly by mesomelic limb shortening, facial malformations, and genital abnormalities. This report describes the sonographic findings in a case of autosomal-dominant Robinow syndrome diagnosed at 23.1 weeks' gestation, in a patient with no history of affected relatives. Here we describe the sonographic characteristics of this syndrome from the diagnosis until birth. The prenatal and postnatal findings, the differential diagnosis, and the prognosis of patients with this syndrome are discussed. © 2013 Wiley Periodicals, Inc. J Clin Ultrasound, 42:297-300, 2014.

Background Porous polyethylene is considered the ideal material for the reconstruction or augmentation of the craniomaxillofacial region.

ResumenUn número importante de pacientes que consultan o han sido diagnosticados con algún trastorno o patología del sueño se asocia con alteraciones craneofaciales.Este tipo de desórdenes son fundamentalmente del tipo obstructivo, y tiene que ver con la directa relación que existe entre la anatomía de la vía aérea superior y el esqueleto facial, que es la estructura que le da sostén.Es lógico entender entonces que las alteración del macizo facial, ya sea de forma o por malformación de sus estructuras, generen alteraciones a nivel de la vía aérea principalmente en la mantención de su diámetro y permeabilidad, teniendo directa relación con alteraciones en la calidad del sueño o siendo la causa etiológica directa de un Síndrome de Apnea Obstructiva del Sueño (SAHOS).Los tratamientos planteados han sido diversos, desde medidas conservadoras hasta tratamiento quirúrgicos cuyo propósito fundamental del reposicionamiento o corrección del complejo máxilo mandibular con el propósito fundamental de lograr un aumento en el diámetro de la vía aérea superior.SummaryAn important number of patients that seek medical attention or have been diagnosed with some sleep disorder or pathology have craniofacial alterations.These type of alterations are essentially of the obstructive type, and are due to the direct relation between the anatomy of the upper airway and the facial structure which supports it.It is logical then that alterations of the facial bones, whether of form or due to deformation of its structures, creates changes in the upper airway, particularly in the maintenance of its diameter and permeability, which are directly related to alterations in the quality of sleep or are the direct etiological cause of Obstructed Sleep Apnea Syndrome (SAOS).The treatments discussed are diverse, from conservative measures to surgical treatments whose basic aim is the repositioning or correction of the maxilary and mandible structure in order to achieve an increase in the diameter of the upper airway.

Treacher-Collins syndrome (TCS) is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS) is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS) has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis.

Background Management of congenital limb aplasia or facial malformations could be improved by composite tissue allotransplantation (CTA), a technique that has never been performed in newborns. For this, however, the induction of donor-specific tolerance would be mandatory, as long-term immunosuppression is not acceptable in this non-lifesaving procedure. Induction of tolerance has been shown to be possible in a newborn CTA rat model but has never been tested in large-animal models. Our goals were to establish a model of CTA in newborn swine to see if tolerance could be obtained without immunosuppression and to assess rejection or tolerance properties via clinical and histologic examinations. Materials and methods We applied a CTA heterotopic knee swine model. We performed two series of surgical procedures: Series 1 was 20 autografts in 6-day-old (1–10) 2,544 kg (1,140–4,060 kg) piglets; Series 2 was 10 allografts without immunosuppression between outbred animals aged 7.8 d (6–10) and weighing 2,770 kg (2,200–3,550 kg). Results In Series 1, six early deaths and two cases of vascular failure were observed. In Series 2, no spontaneous deaths were observed and all piglets presented clinical and histologic rejection. Conclusions Our findings strongly suggest that newborn immunologic status is not sufficient for the development of tolerance in large animals without immunologic intervention. Complications and animal death after transplantation correlate with age and weight. Low rates for both vascular failure and postoperative death permit the use of this model in piglets weighing over 2 kg and aged more than 6 d for research on newborn CTA.

Amniotic band syndrome (ABS) is a collection of fetal congenital malformations affecting mainly the limbs, but also the craniofacial area. The pathogenic mechanism is still unclear. The facial malformations in ABS are multiple, polymorphous, and asymmetric. The type and extent of facial defects depend on band location and time of onset. Defects may include a combination of facial cleft, cleft palate and lip, ocular lesions, and cranial malformations. The management of this disease must be multidisciplinary and the outcome depends on the gravity of malformations.

РЕЗЮМЕ. Проводилася оцінка результатів ураноостеопластики з одночасною кістковою пластикою альвеолярного відростка при лікуванні вроджених незрощень альвеолярного відростка та піднебіння у дітей. Дослідження проводили у 62 дітей, які перебували на лікуванні у відділенні щелепно-лицевої хірургії Львівської обласної клінічної лікарні з вродженими наскрізними незрощеннями піднебіння. У 32 з них проведено ураноальвеолоостеопластику (основна група) і у 30 – уранопластику слизово-окісним клаптем за способом І. М. Готя і співавторів (група порівняння). Запропонований спосіб лікування вроджених незрощень піднебіння та альвеолярного відростка, за даними клінічних спостережень, сприяє кістковій регенерації в ділянці дефектів та відновлює анатомічну цілісність щелепи.Ключові слова: вади розвитку обличчя, вроджені незрощення піднебіння та альвеолярного відростка, остеотрансплантація, уранопластика, алотрансплантація, ураноостеопластика.

The aim of the study was to assess structure and dynamics of congenital facial clefts prevalence in Republic Sokha (Yakutiya) in the last 13 years. Both retrospective and prospective study included 423 children with congenital facial malformations. Dynamic analysis showed cyclical changes in the incidence of cleft lip and palate (CLP) and relatively high regional prevalence of CLIP with tendency to increase. The age of parents of children with congenital facial malformations tend to decrease with time. The received epidemiological data prove the need to improve treatment and rehabilitation protocols for CLP patients in Republic Sokha (Yakutiya).Целью исследования стало проведение динамического анализа частоты и структуры врожденных расщелин верхней губы и неба в Республике Саха (Якутия) за последние 13 лет. В исследование, носившее как проспективный, так и ретроспективный характер, были включены 423 ребенка с врожденными пороками развития лица. Динамический анализ показал циклические изменения в распространенности расщелин губы и неба и относительно высокую распространенность данного заболевания в регионе с тенденцией к дальнейшему увеличению. Определена также тенденция к снижению возраста родителей детей с расщелиной губы и неба. Полученные эпидемиологические данные подтверждают необходимость совершенствования протоколов лечения и реабилитации детей с расщелиной губы и неба.

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre and post natal overgrowth, facial malformations, and visceral, skeletal, and neurological anomalies. The physical characteristics of SGBS have been well documented; however there is a lack of description regarding the behavioral phenotype. We report the case of a 6-year-old boy, with confirmed deletion of 6-8 exons of the glypican-3 gene (GPC3) who presents three distinctive findings: the persistence of the craniopharyngeal canal, an immune-allergic specificity, and a scarcely behavioral phenotype consisting in the association of Austim Spectrum Disorder with accompanying mild intellectual disability and language impairments. He also fulfilled the criteria of Attention Deficit Hyperactivity Disorder and Oppositional Defiant Disorder according to DSM 5 criteria. The specificities of the case are discussed in the light of recent pathophysiological data.

Clefts that occur in children are a special topic. Avoiding risk factors, and also an early diagnosis of cleft possibility can result in minimizing or avoiding them. If on the other hand when clefts occur they require a long-term, multistage specialized treatment. Etiology of clefts seems to be related to many factors. Factors such as genetic, environmental, geographic and even race factors are important. Identification of risk factors can lead to prevention and prophylactic behaviors in order to minimize its occurrence. Exposure to environmental factors at home and work that lead to cleft predisposition should not be disregarded. It seems that before planning a family it would be wise to consult with doctors of different specializations, especially in high-risk families with cleft history in order to analyze previous lifestyle. Clefts are very common in hereditary facial malformations and are causing a lot of other irregularities in the head and neck region. In this paper after a brief papers review authors present socio-geographic, environmental and also work place related factors that are influencing pregnant women condition and should be taken under serious consideration.

Summary Computer-assisted endoscopic surgery (CAES) in combination with a transpalatal approach was applied in a 6-year-old girl with extensive cranio-facial malformation and bilateral nasal and choanal atresia. The GE Healthcare InstaTrak 3500 Plus surgical navigational system was used. The transnasal and choanal atresia was successfully opened and kept patent. The navigational system was able to point and localize orientations between the distorted anatomy, the instrument tip and in depth measurements for intraoperative planning. In extended anatomical malformation of the nasal passages and the surrounding structures, where the anatomical landmarks are missing or definitely altered computer-aided navigation may facilitate the application of additional endoscopic surgery in combination with more radical surgical approaches. Development of special drills and curved suction devices mounted on the receiver and tailored for such anatomical malformations may offer a complete computer-aided endoscopic solution in similar cases.

Craniofacial surgery is a new sub-specialty in the field of plastic reconstructive surgery and is dedicated to the treatment of severe cranial and facial malformations. Craniofacial surgery gradually started in Göteborg in the late 1970's and has been acting as the Scandinavian center since 1983. Over these 30 years an almost complete change in surgical techniques has evolved. Also profound changes in timing of surgery have followed. Results have been dramatically improved based on critical evaluation of standardized registration of long-term results. One of the most dramatic developments has been the introduction of implantable stainless steel springs. This has changed the treatment of Craniosynostosis completely and has made midfacial advancement procedures possible without relapse.

We report a patient with bilateral microphthalmia with cyst, limb anomalies, and multiple facial malformations. This patient has clinical features similar to Waardenburg ophthalmo-acromelic syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia. Although all of these syndromes are characterized by microphthalmia, the presently reported patient does not have the complete pattern of any of these syndromes, It is possible that he has a previously undescribed syndrome, most closely related to the cerebro-oculo-nasal syndrome with malformations outside the craniofacial region. More case reports are needed to further delineate this possibly new syndrome.

West syndrome (WS) is an epileptic encephalopathy usually occurring during the first year of life and is characterized by severe electroencephalography (EEG) derangement. Most of these patients may develop cerebral palsy, facial malformations, and skeletal deformities. The anaesthesiologist should make the preoperative assessment carefully due to epileptic seizures and should consider the possibility of difficult intubation because of coexisting anatomic malformations during the anaesthesia management of patients with WS. This report presents a case of general anaesthesia management in a left femoral fixation operation in an 11-year-old, 18 kg male patient.

To obtain a better understanding of mandibulo-facial dysostosis and hemicraniofacial microsomia in man, the authors carried out a histologic and scanning electron microscope study of the facial malformations produced in mouse embryos by retinoic acid and methyl-triazene. The administration of 400 mg/kg 13 cis-retinoic acid (RA) to pregnant C57BL mice on day 9 of gestation produced anomalies of the cephalic extremity in the embryos resembling human mandibulo-facial dysostosis. The 64 embryos collected presented hypoplasia of the branchial arches or the snout in 79% of cases, auricular anomalies in 47% and ophthalmic anomalies in 12.5%. Fourteen NMRI mice on day 10.5 of gestation were treated with 1.5 mg (0.5 mg/kg) methyl-triazene (Methyl). The 126 embryos collected had developed a very high percentage of micromandibles and anomalies of both embryonic ears (94.6% to 100%). Finally, although the facial anomalies produced by retinoic acid resemble the human mandibulo-facial dysostosis syndrome, no correlation was found between hemicraniofacial microsomia and the administration of methyl-triazene.

The fetal face is an essential source of information. Its evaluation makes it possible to diagnose several fetal diseases and syndromes. Three-dimensional ultrasound and four-dimensional ultrasound facilitate the evaluation of superficial anatomical facial structures and have become essential complementary tools to two-dimensional ultrasound, providing additional and more precise information about the presence and severity of facial defects. This article reviews the normal facial development essential to understand the pathogenesis of facial malformations as well as the assessment of a normal and dysmorphic face with two-dimensional, three-dimensional and four-dimensional ultrasound and discusses the clinical implications of detecting facial anomalies in the prenatal period.

The purpose of this study was to evaluate if Frankfort plane (FH) and plane passing through the lateral semicircular canals (LS) can be used as reference planes in three-dimensional analysis.Ten patients with facial asymmetry underwent a three-dimensional computed tomography. Computed tomographic images were processed by means of a commercial software and a personal computer to obtain a three-dimensional virtual craniofacial model. The average Frankfort plane and the plane passing through the LS were identified. The distance from the above-mentioned planes to the first upper molar and upper canine cusp was measured.It was not possible to detect an FH plane in any of the patients. Right FH, left FH, average FH, and LS plane were traced. The discrepancies among reference planes were significant in cases with severe asymmetry. A minimal discrepancy was noticed in patients with light asymmetry.In patients with severe asymmetry, the LS plane results in steady, reproducible, detectable, and closer to the patient's anatomy, representing a valid reference plane for three-dimensional computed tomography analysis.

Cerebral dysgenesis encompasses varied disorders of brain development. Based on the understanding of these conditions provided by histopathologists, embryologists, radiologists and developmental pediatricians, surgeons are able to appropriately assist in the care of these patients. The surgeon can offer assessment of the ventriculomegaly that commonly accompanies cerebral dysgenesis in addition to providing methods to control hydrocephalus, to reconstruct cranial and facial malformations and to remove dysfunctional tissue. For most patients, surgical intervention is only one of the many factors that determine developmental prognosis. Based on the foundation built by other specialists, this review discusses cerebral dysgenesis from the perspective of historical and current surgical interventions.

Holoprosencephaly (HPE) is commonly associated with facial malformations. We present a case of semilobar HPE associated with distal limb defect which was detected at 12 weeks of gestation.The fetus had a crown-rump length of 60 mm (12 weeks-4 days), had nuchal translucency thickness of 1.5 mm. Initial two-dimensional (2D) ultrasound revealed the absence of nasal bone, decreased BPD and abnormal profile. Transvaginal 2D ultrasound was effective in the detection of HPE (partially absence of the interhemispheric fissure, fused thalami, the choroid plexuses were not visualized bilateraly: absent 'butterfly' sign), cylopia, absence of the nose and unilateral radial aplasia. Three dimensional (3D) ultrasound provided a better visualization of the associated anomalies. The necropsy result confirmed the sonographic findings: the diagnosis was semilobar HPE, cyclopia, absence of the nose, and the absence of the radius and the thumb in the left arm.Transvaginal 2D sonographic examination is effective in detection of the cases with HPE at first trimester. Fetal morphological study through 3D ultrasound may facilitate the diagnosis of associated anomalies.

Computer-based surgery simulation is a rapidly emerging and increasingly important area of research that combines a number of disciplines for the common purpose of improving healthcare. The objective of this article is to provide a virtual surgery tool for accurately planning the aesthetic impact of hard and soft tissue movements in dentoskeletal malocclusions. The approach proposed here allows direct interaction with a completely three-dimensional (3D) computed tomography (CT) model of a solid, highly detailed structure of the head to obtain a realistic prediction of soft tissue behavior. We studied 25 patients who had facial malformations pre- and postoperatively with 3D hard and soft tissue CT studies, and maxillary or mandibular osteotomies were simulated. The postoperative 3D CT and facial outcomes were compared with the simulations. In 80% of the cases studied, the simulation-predicted changes, when compared with the clinical outcomes, were within the tolerance level (2 mm) established by maxillofacial surgeons.

Computer-based surgery simulation is a rapidly emerging and increasingly important area of research that combines a number of disciplines for the common purpose of improving healthcare. The objective of this paper is to provide a virtual surgery (VISU) tool for accurately planning the aesthetic impact of hard and soft tissue movements in dento-skeletal malocclusions. The approach proposed here allows direct interaction with a completely three-dimensional (3-D) computed tomography (CT) model of a solid, highly detailed structure of the head to obtain a realistic prediction of soft tissue behavior. We studied 25 patients who had facial malformations pre- and postoperatively with 3-D hard and soft tissue CT studies, and maxillary or mandibular osteotomies were simulated. The postoperative 3-D CT and facial outcomes were compared with the simulations. In 80% of the cases studied, the simulation-predicted changes, when compared with the clinical outcomes, were within the tolerance level (2 mm) established by maxillo-facial surgeons.

Background: Hemifacial microsomia (HM) is one of the most common congenital facial malformations of newborns worldwide. Despite its prevalence, little is known about its etiology. Features of HM vary among different reports in the literature, affecting ears, mouth, and mandible on one or both sides. Purpose and Methods: We performed a systematic literature review to determine if there is new evidence regarding the pathological origins of HM. During a seven-month period (September 2010-April 2011) an exhaustive electronic database search was constructed. An inclusion criterion, which set the specific parameters of the electronic database search for this review, was implemented using a number of built-in search tools. Results: A total of 1,250 published reports were displayed upon entry of the Boolean phrase “etiology AND hemifacial microsomia.” Of these papers, all of the publications selected for by the inclusion criterion had been published within the last ten years. Concomitantly, with regards to etiological origins, selection of a specific paper had to convey theories or experimental approaches of which had not been published as the main focus of a report more than three times in all with regards to previous documented literature with hemifacial microsomia as its basis. This final inclusion criterion left only eight studies eligible for this review. Reports included the suggestion of an etiologic role of growth hormone deficiency, fluoxetine ingestion, SALL4 expression, BAPX1 expression, and trisomy of chromosome 10. It appears that both genetic and environmental factors play a role in the etiology of HM. These factors include gene mutations, variation in serotonin receptor binding, growth hormone imbalances, and chromosomal abnormalities. Future studies in humans should determine the frequency of etiologic coding mutations in SALL4, BAPX1, and trisomy 10 in HM cases. Antecedentes: la microsomía hemifacial (MH) es una de las malformaciones faciales congénitas más frecuentes en recién nacidos mundialmente. A pesar de su prevalencia, poco se sabe sobre su etiología. Las características de la MH varían en los diferentes reportes de la literatura; afecta oídos, boca y mandíbula, uni o bilateralmente. Propósito y métodos: se llevó a cabo una revisión sistemática de la literatura para determinar si hay nueva evidencia sobre el origen patológico de la MH. Durante siete meses (septiembre de 2010-abril de 2011) realizamos una búsqueda exhaustiva en bases de datos electrónicas. Un criterio de inclusión que determinó los parámetros específicos de la búsqueda se implementó usando un número de herramientas de búsqueda. Resultados: la búsqueda booleana (“etiology AND hemifacial microsomia”) arrojó un total de 1250 publicaciones. Se seleccionaron reportes publicados en los últimos diez años. Asimismo, con respecto a la etiología, los artículos debían incluir teorías o experimentos que no se hubieran publicado como asunto principal más de tres veces con la MH como base. Este criterio final de inclusión dejó solamente ocho estudios elegibles para la revisión. Los reportes sugieren que una deficiencia en la hormona del crecimiento, ingestión de fluoxetina, expresión de SALL4, expresión de BAPX1 y trisomía del cromosoma 10 como factores etiológicos. Parece que factores genéticos y ambientales cumplen un papel en la etiología de la MH. Estos factores incluyen mutaciones genéticas, variación en la unión del receptor de la serotonina, desbalances de la hormona del crecimiento y anomalías cromosómicas. Estudios futuros en humanos deberían determinar la frecuencia de mutaciones etiológicas en la codificación de SALL4, BAPX1 y trisomía 10 en casos de MH.

Objective: Oblique facial clefts are rare congenital deformities. They constitute 0.22% of all facial malformations. In this case report, an oblique facial cleft defined as Tessier number 5 is presented. The number 5 cleft of Tessier is one of the most rare congenital facial clefts; review of the literature revealed 20 patients. This case was also demonstrated with associated limb anomalies, suggesting that the patient may have been affected by the amnion rupture sequence. The teratology of these malformations is discussed, and attention is drawn to the amniotic rupture sequence as a possible cause.