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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.

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.

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.

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.

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.

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.

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.

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.

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.

Two hundred cases of double or multiple anomalies (up to five in the same fetus) out of 828 karyotypically normal fetuses with at least one ultrasound finding were enrolled in the present study. One hundred and sixty patterns belonging to 200 fetuses were found. Then, we included in the final analysis only those double or triple patterns of anomalies with frequency more then 1. Thus, 123 cases and 83 patterns were analyzed. A double pattern was intended as any combination of ultrasound findings present in the same fetus. Exact chi square test was used to evaluate the specificity of the association of the most frequent patterns. The association of patterns was expressed as ratio between observed and expected frequency (O/E) ratio. Pattern analysis was used as statistical tool in order to calculate the number of possible associations of ultrasound finding. Anomalies of fluid distribution, as well as Central Nervous System malformations, and facial malformations were among the most significant associations. Among the triple patterns. Cleft Lip + Cleft Palate + Holoprosencephaly showed the highest degree of association. Antenatal diagnosis of ultrasound finding cans benefits by considering the present results.

The effect of dexamethasone on skin collagen was studied in adult mice from strains with a high frequency (A/J) or low frequency (NIH Swiss Webster) of spontaneous or stress-induced facial malformations. Dexamethasone inhibited synthesis of collagen in both strains of mice. The proportion of collagen in the skin of dexamethasone-treated A/J but not Swiss Webster mice appeared to increase slightly due to a greater loss of noncollagenous proteins in the skin. These results indicate that dexamethasone causes degenerative effects in the skin by altering both the synthesis and degradation of proteins and that A/J mice are more affected by glucocorticoid treatment.

The various problems concerning mostly the rules and organization of cranio-facial malformation (CFM) treatment are discussed. According to the author's proposals apart from leading, highly specialized centres, the more common and accessible departments engaged not exclusively in cranio-facial surgery could be usefully and realistically employed nowadays. Numerous examples of treatment are presented and the proposed range of such unit activity as well as possible benefits and shortcomings connected with the treatment of some craniofacial malformations on an irregular basis are discussed.

The following findings may help to explain the production of oral-facial malformations, in rats, after the maternal administration of benzhydrylpiperazine compounds: (1) A delay in the process of palate formation occurs when chlorcyclizine is administered, orally, at a dose that yields a 50% incidence of cleft palate (50 mg/kg). (2) At this dose edema, manifested partly as thoracic enlargement, can be demonstrated during the delay. (3) A similar increase in thoracic size, due to the edema, occurs after the administration of four additional benzhydrylpiperazine compounds that produce the oral-facial malformations, when administered at appropriate doses, but not after three other antihistamines that do not yield the cleft palate. (4) Edema formation is dose-dependent at the intermediate doses for cleft palate formation. (5) Finally, edema production is not dependent upon cleft palate production, but cleft palate production may be dependent upon the edema. From these findings and reference to the literature, a mechanism is suggested that relates the production of the cleft palate, micrognathia (receded mandible), microstomia (small mouth), and glossopalatine fusion (fusion of the tongue to the palatine processes) to pressures from fluidenlarged tissue, perhaps partly from the enlarged thorax. The mechanism is discussed.

Two fetuses affected by cyclopia, holoprosencephaly, and malformations of the nasopharynx were diagnosed prenatally in association with acute polyhydramnios. The facial malformations, confirmed by fetography-amniography and proven at birth, were suspected on the basis of the ultrasonographic examination.

Ostertag (10) has cited over 40 cases of arhinencephaly reported in the literature. Review of these publications showed that all of the patients, who survived early infancy, were mentally deficient. The expression of this congenital malformation of the brain ranges from a relatively mild form consisting of the sole absence of olfactory bulbs, tracts and trigone (Oldberg, (9); Kohne, (6)) to severe forms in which the absence of these structures is combined with a rudimentary, undivided cerebrum and various facial malformations (Marburg (8) Kohn (5)). The last include such defects as cleft palate, cleft lip, and cyclopia. In the majority of reported cases very little or no information is given regarding the general maternal state of health and the course of pregnancy. Barber et al. (1) mention an interesting association of this malformation with maternal hypertension and toxemia of pregnancy. Recently, Dekaban and Magee (2) encountered one instance of a severe form of arhinencephaly in a series of children with neurological abnormalities born to diabetic mothers. The present report also concerns arhinencephaly in a newborn infant of a diabetic mother.

Super-selective arteriography technique is described. This examination enables the finest collaterals of the branches of the external carotid to be shown. Numerous anastomoses which explain the ineffectiveness of certain arterial ligatures used in epistaxis can be seen. Embolization has become an extremely common method for all facial malformations responsible for epistaxis and for O.-R.-L. tumours fed by the external carotid. Several cases are described which demonstrate that embolization in severe epistaxis is a speedy, elegant and permanent method.

Largely as a result of the historic work of Rathke 1 in 1825 on the development of structures of the head and neck from the embryonic branchial system, many hitherto unexplained anomalies of this region of the body have been better understood. Rathke noticed the similarity of the piscine gill system to the embryonic cervical structures of man, the pig, horse and chick. Other investigators followed Rathke and in rapid succession correctly related the embryonic to the normal postnatal anatomy. That congenital anomalies of the face and neck were soon interpreted as the effects of early embryonic maldevelopment is apparent. Heusinger, 2 for example, in 1864 analyzed forty-six cases of cervical and facial malformations and was well aware of their origin. The most common defect of the branchial system in the neck of man is the lateral cervical cyst or fistula. Among the rarer defects is the presence of cartilaginous