Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome.

BACKGROUND: Oropharyngeal teratoma may occur by itself or together with other craniofacial malformations, most commonly cleft palate. Oropharyngeal teratoma may be also seen in association with frontonasal dysplasia and/or various degrees of craniofacial duplication. The nosology of these sporadic disorders is poorly defined. CASE AND REVIEW: We report on a 22-week fetus with a protruding nasopharyngeal teratoma, partial oral duplication, anencephaly, multiple costo-vertebral segmentation defects, and cervical diplomyelia. A review of the literature identified 48 patients published from 1931 to 2013 with co-existing clefting and duplication anomalies of the cephalic pole. Thoracic and abdominal midline anomalies were reported 13 times. CONCLUSION: The term "craniofacial teratoma syndrome" is introduced to define this phenotype as a recognizable developmental field defect of the cephalic pole. Developmental pathogenesis is discussed with a focus on pleiotropy and stereotaxis. The observation of midline findings suggestive of holoprosencephaly in a few previously reported cases suggests a role for the sonic hedgehog signaling pathway in this malformation pattern.

A rare case of ankyloglossia and bilateral fusion of mandibular incisors.

Dental anomalies may occur both in primary and permanent dentitions. Abnormalities in tooth size, shape, and structure result from disturbances during the morphodifferentiation stage of development. They are observed frequently during routine dental examinations and might be associated with a syndrome. Dentists must be familiar with the prevalence of such anomalies, as early diagnosis can prevent complications such as compromised aesthetics, space loss, midline shift, and carious exposure. This article describes a rare presentation of bilaterally fused permanent mandibular central and lateral incisors, along with ankyloglossia and fluorosis in a 22-year-old man with the chief complaint of "dirty teeth."

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.

CHARGE (coloboma of the eye, heart defects, choanal atresia, retarded growth and development, genital hypoplasia and ear anomalies and/or hearing loss) syndrome is a rare genetic, multiple-malformation syndrome. About 80% of patients with a clinical diagnose, have a mutation or a deletion in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7). Genotype-phenotype correlation is only partly known. In this nationwide study, phenotypic characteristics of 18 Danish CHD7 mutation positive CHARGE individuals (N = 18) are presented. We studied patient records, clinical photographs, computed tomography, and magnetic resonance imaging (MRI). Information was not available for all traits in all subjects. Therefore, the results are presented as fractions. The following prevalence of cardinal symptoms were found: coloboma, 16/17; heart defects, 14/18; choanal atresia, 7/17; retarded growth and development, 11/13; genital abnormalities, 5/18; ear anomalies, 15/17 and sensorineural hearing loss, 14/15. Vestibular dysfunction (10/13) and swallowing problems (12/15) were other frequent cranial nerve dysfunctions. Three-dimensional reconstructions of MRI scans showed temporal bone abnormalities in >85%. CHARGE syndrome present a broad phenotypic spectrum, although some clinical features are more frequently occurring than others. Here, we suggest that genetic testing for CHD7 mutation should be considered in neonates with a specific combination of several clinical symptoms.

Epidermolysis Bullosa Oropharyngeal Severity (EBOS) score: a multicenter development and reliability assessment.

BACKGROUND: Epidermolysis bullosa (EB) is a genetic mucocutaneous disorder characterized by blister formation upon mild trauma. All 4 EB types may show oropharyngeal lesions involving either hard or soft tissues. Currently, there are very few data on EB scoring that include the oropharyngeal cavity. OBJECTIVES: We sought to develop an oropharyngeal severity score that was objective, valid, reliable, reproducible, easy to perform, and appropriate for all EB types. METHODS: In this study, oral medicine specialists developed a new score, the EB Oropharyngeal Severity (EBOS) score. This measured oropharyngeal disease activity (erythema, atrophy, blisters, erosion/ulceration) and structural damage (microstomia, ankyloglossia, scarring phenotype beyond microstomia and ankyloglossia, enamel hypoplasia). It was tested on 92 patients with different types/subtypes of EB, and interobserver and intraobserver reliability were assessed. RESULTS: The EBOS mean total score was 12.9 ± 10.9 (range: 0-34). Both interobserver and intraobserver reliability for total score on all patients with EB were considered excellent (intraclass correlation coefficient 0.94; 95% confidence interval 0.90-0.96 and intraclass correlation coefficient 0.90; 95% confidence interval 0.84-0.94, respectively). Even analyzing each single parameter of the disease activity and structural damage, a substantial to excellent correlation was found in the interobserver (except for 4 sites) and intraobserver reliability. A significant correlation was found between EB types/subtypes and the EBOS median score (P < .001), but not between age and the EBOS mean total score in each group. LIMITATIONS: The sample size was small and the number of EB subtypes was limited. CONCLUSIONS: The EBOS score seems to represent an instrument capable of truly quantifying the oropharyngeal severity in different types/subtypes of EB, demonstrating excellent interobserver and intraobserver reliability.

Lingual leiomyomatous hamartoma with bifid tip and ankyloglossia in a patient without oral-facial-digital syndrome: a case report and literature review.

Here is a rare case of lingual leiomyomatous hamartoma (LLH) with bifid tongue tip and tongue-tie in a patient with non-oral-facial-digital syndrome (OFDS). A 29-year-old male consulted for a painless tumor over the midline of the tongue dorsum measuring 2 × 1.5 cm. The tumor was excised and the tongue-tie was corrected. Diagnosis of LLH was based on histo-pathologic and immuno-histochemical studies. The epidemiologic data and differential diagnosis of LLH, as well as related literature, are discussed. To date, only 14 cases of LLH have been reported in English literature. This may be the first reported case of LLH with bifid tip and ankyloglossia in a non-OFDS patient.

Prosthodontic rehabilitation in patient with ectodermal dysplasia combining preprosthetic techniques: a case report.

Oral manifestations in ectodermal dysplasia include oligodontia, alveolar ridges hypoplasia, and others. Due to the special conditions in terms of unhealthy teeth and lack of bone, implant-supported rehabilitation seems to offer the most satisfactory outcome. A 27-year-old male diagnosed with ectodermal dysplasia was referred to our department for oral rehabilitation. Oral manifestations included oligodontia, maxillary and mandibular atrophy, mandibular alveolar ridge with knife-edge morphology, and conical teeth. Treatment planning consisted of a Le Fort I osteotomy with interpositional grafts, bilateral sinus lift, and placement of maxillary and mandibular inlay and onlay corticocancellous grafts, using autologous iliac crest bone. In the second surgery, all remaining teeth were removed and 11 endosteal implants were placed. Six months after implant placement, a bimaxillary fixed implant-supported prosthesis was delivered, maintaining a satisfactory esthetic and functional result after a 2-year follow-up. The use of combined preprosthetic techniques allows the placement of endosteal implants and a fixed implant-supported prosthesis in patients with oligodontia and ectodermal dysplasia, providing an esthetic and functional oral rehabilitation.

Craniofacial and intraoral phenotype of Robinow syndrome forms.

Robinow syndrome (RS) is a rare genetic condition with two inheritance forms, autosomal dominant RS (DRS) and autosomal recessive RS (RRS). The characteristic features of this syndrome overlap in both inheritance forms, which make the clinical differential diagnosis difficult, especially in isolated cases. The objective of this study was to identify differences in the craniofacial and intraoral phenotype of patients with DRS and RRS. The characteristics and frequency of 13 facial and 13 intraoral clinical features associated with both DRS and RRS were assessed by direct dysmorphology examination and using a digital photographic analysis in 12 affected subjects. Although the phenotypic presentation varied and overlapped in the two forms of the syndrome, there were differences in the severity of the craniofacial and intraoral features. The craniofacial dysmorphology of RS was more severe in RRS. Nasal anomalies were the most frequent craniofacial features in both DRS and RRS. In contrast, intraoral features such as wide retromolar ridge, alveolar ridge deformation, malocclusion, dental crowding and hypodontia were more severe in patients with DRS. Overall, facial characteristics appeared less pronounced in adult subjects compared to younger subjects. Craniofacial and intraoral findings are highly variable in RS, with abnormalities of the intraoral structures being more prominent in the DRS form. We propose that the difference in the alveolar ridge deformation pattern and severity of other intraoral characteristics could enhance the differential diagnosis of the two forms of this syndrome.

A case of otocephaly with anencephaly and meningomyelocele.

A case of otocephaly with anencephaly and meningomyelocele: Otocephaly is a rare lethal syndrome with microstomia, aglossia, agnathia, and synotia as major clinical features due to arrest in development of the first branchial arch. Some associated anomalies may be present as cyclopia, holoprosencephaly, cerebellar hypoplasia, situs inversus, and other visceral anomalies. We describe a case of fetus, spontaneously aborted in the 14th week of gestation with otocephaly complex (agnathia, synotia, microstomia) and associated anencephaly and meningomyelocele.

Oral-facial-digital syndrome type 1: oral features in 12 patients submitted to clinical and radiographic examination.

OBJECTIVE: To evaluate the oral features in individuals with oral-facial-digital syndrome type 1 (OFD 1), previously diagnosed by the Genetic Sector of the Hospital of Rehabilitation of Craniofacial Anomalies of the University of São Paulo (HRAC-USP). DESIGN: Twelve patients with OFD 1 were examined clinically and radiographically; their medical files were also evaluated. RESULTS: Associated oral malformations were observed in all patients (100%). The most frequent findings were tongue hamartomas, multiple buccal frena, asymmetric lips, asymmetric tongue, and bilateral maxillary gingival swelling. Interestingly, atrophy of the maxillary midline frenum was also observed in all the individuals examined. CONCLUSIONS: Several extra and intraoral alterations were observed in patients with OFD 1. The authors suggest the inclusion of atrophy of the maxillary midline frenum as a commonly found characteristic of OFD 1.

Robinow syndrome, Cockayne syndrome, and Pfeiffer syndrome: an overview of physical, neurological, and oral characteristics.

The general population expects dentists to be well-versed in the typical and atypical orofacial characteristics of all potential patients. As a result, dentists must possess a reasonable amount of knowledge concerning the physical and intraoral traits associated with developmental disorders such as those associated with Robinow syndrome, Cockayne syndrome, and Pfeiffer syndrome. None of the physical, neurological, or oral anomalies discussed in this column present insurmountable barriers to providing dental care. Dental techniques and procedures performed on patients with any of these syndromes will be identical or very similar to those done on any other patient.

Anomalies of the oral cavity in newborns.

Examination of the oral cavity should be an essential part of the newborn assessment. Early detection of congenital disorders is essential to begin appropriate medical or surgical therapy and to prevent complications that could profoundly affect a child's life. The present review aims to describe the main anomalies of the oral cavity in infants and provide images in order to help the physician in current clinical practice.

Folate intake, markers of folate status and oral clefts: An updated set of systematic reviews and meta-analyses.

BACKGROUND: There has been a longstanding debate about the role of folate in the etiology of orofacial clefts (OFCs). Studies of different measures of nutritional intake or folate status have been done to investigate the possible role of folate in the prevention of OFC. Only one knowledge synthesis has attempted to bring together different types of evidence. The aim of the present work was to update it. METHODS: Evidence for associations between OFC and dietary folate, supplement use, folic acid fortification, biomarkers of folate status, and variants of MTHFR (C677T and A1298C) were included. Potentially eligible articles were systematically identified from PubMed, Medline, Embase, and Web of Science (2007-2020) and combined using random-effects meta-analysis when appropriate. Quality assessments were conducted using the Newcastle-Ottawa scale and Cochrane's risk of bias tool. RESULTS: Sixty-four studies published since the previous knowledge synthesis were identified, with eight of these identified through a supplementary search from October, 2018 to August, 2020. There was an inverse association between folic acid-containing supplement use before or during pregnancy and cleft lip with or without cleft palate (CL/P) (OR 0.60, 95% CI 0.51-0.69), with considerable between-study heterogeneity. The prevalence of CL/P showed a small decline post-folic acid fortification in seven studies (OR 0.94, 95% CI 0.86-1.02). No association was found between OFC and genetic markers of folate status. The coronavirus-19 pandemic has threatened food availability globally and therefore there is a need to maintain and even enhance surveillance concerning maternal intake of folate and related vitamins. CONCLUSIONS: The risk of non-syndromic OFC was reduced among pregnant women with folic acid-containing supplements during the etiologically relevant period. However, high heterogeneity between included studies, incomplete reporting of population characteristics and variation in timing of exposure and supplement types mean that conclusions should be drawn with caution.

Elements of morphology: standard terminology for the lips, mouth, and oral region.

An international group of clinicians and scientists working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. The goals are to standardize these terms and reach consensus regarding their definitions. In this way, we will increase the utility of descriptions of the human phenotype and facilitate reliable comparisons of findings among patients. Discussions with other workers in dysmorphology and related fields, such as developmental biology and molecular genetics, will become more precise. Here we summarize the anatomy of the oral region and define and illustrate the terms that describe the major characteristics of the lips and mouth.

Congenital dilatation of the submandibular duct.

Congenital dilatation of the submandibular duct also known as imperforate submandibular duct is a rare condition of unknown etiology, clinically characterized as a well-defined, fluctuant swelling in the floor of the mouth, and microscopically defined as a cystic cavity covered with pseudostratified columnar epithelium consistent with a dilated salivary duct. A 1-month-old female presented with a translucent, smooth cystic swelling in the floor of the mouth causing breastfeeding difficulty. The lesion was surgically excised and microscopically, a cystic cavity lined with pseudostratified columnar epithelium was observed. The final diagnosis was congenital dilatation of the submandibular duct. Dentists and otolaryngologists should consider congenital dilatation of the submandibular duct when evaluating fluctuant swelling in the floor of the month of infants.

Ritually induced growth disturbances and deformities of the orofacial system--a contribution to cranial morphogenesis.

Numerous ritual acts involving the skull result in orofacial changes. The present study focuses on ritual acts of Brazilian Zoé Indians. A distinct deformation effect of the ritual act (wearing a lip-plug) on the morphology of the orofacial system is demonstrated and documented using jaw models. The studies show that the lip-plug significantly influences tooth position and jaw growth. While the maxilla displays palatal displacement of the lateral incisors and elevation of the palate, retraction occurs in the mandible depending upon plug size. Additionally, both the plug and the nutritional habits of the Indians induce marked abrasion of all teeth. Moreover, it is shown that the duration of lip-plug wear is an essential determinant of sustained orofacial changes.

A family with autosomal dominant oculo-auriculo-vertebral spectrum.

Oculo-auriculo-vertebral spectrum (MIM 164210) is a term suggested by Gorlin to summarize the different phenotypic expressions of a continuum that has been known as hemifacial microsomia, Goldenhar syndrome, or first and second branchial arch anomalies. The different terms indicate the extremely variable clinical findings, including especially defects of aural, oral and mandibular development. Additionally, cardiac, renal, skeletal and other anomalies occur. The majority of oculo-auriculo-vertebral spectrum cases are sporadic; nevertheless, several families have been reported with proof of both autosomal dominant and autosomal recessive inheritance. We describe a family with transmission of oculo-auriculo-vertebral spectrum from a mother to her two daughters indicating an autosomal dominant mode of inheritance. Our literature review reveals that patients with autosomal dominant inheritance of oculo-auriculo-vertebral spectrum are more often bilaterally affected than patients with sporadic occurrence of oculo-auriculo-vertebral spectrum. In addition, hearing loss, absent or narrow external auditory canal, anomalies of the mouth and epibulbar dermoids seem to occur less frequently in patients with autosomal dominant oculo-auriculo-vertebral spectrum compared with sporadic oculo-auriculo-vertebral spectrum.

Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype.

INTRODUCTION: A 45,X/46,XY karyotype in women with Turner syndrome (TS) is very rare. The presence of a Y chromosome in the karyotype causes phenotypic differences and increased risk for neoplastic disease, compared to TS-women with other karyotypes. Our study addresses an issue: non-genital phenotypic differences between TS-patients with a Y-chromosome of their karyotype and TS-women without it. MATERIAL AND METHODS: Results from patient history/physical examinations of the head and neck of eight TS-women and the 45,X/46,XY karyotype were compared with those observed in 164 TS-women and 30 controls. The heights of TS-groups: 142.5 ± 7.2 and 144.9 ± 7.2 cm were lower than controls (165.2 ± 6.6 cm). Participants were examined from 1995 to 2014. RESULTS: Among 28 study parameters, 15 were more frequently observed in TS women with the 45,X/46,XY karyotype compared to controls. Only abnormalities in the oral cavity and a history of childhood lymphoedema, differed significantly in the TS groups. CONCLUSIONS: With respect to the head and neck, the patient history and physical examination results of TS-women and the 45,X/46,XY karyotype and TS and other karyotypes revealed similar differences compared to controls. Compared to others TS patients, 45,X/46,XY individuals might more frequently have oral cavity soft tissue abnormalities and more rarely a history of childhood lymphoedema. (Endokrynol Pol 2017; 68 (1): 47-52).

Multiple periorbital dermoid cysts, clefting and mental retardation: a new malformation syndrome?

We report a child with multiple anomalies that was born to healthy nonconsanguineous parents after an unremarkable pregnancy. The female infant had bilateral cleft lip and palate, bilateral toe syndactyly (second and third with no bony fusion), multiple bilateral periorbital tumors, ectropion, lagophthalmos, strabismus and prominent eyes. High frontal hairline and everted lower lip were also noted. Soon after delivery, she was referred to the 'Cleft Clinic' where she underwent cleft lip and palate repair. Seven dermoid cysts were also removed from both periorbital areas. Follow-up documented moderate developmental retardation, hypothyroidism and hydronephrosis. Although some features of our patient overlap with those described in ectrodactyly, ectodermal dysplasia and cleft lip/palate, Martinez, Zlotogora-Ogur, Filippi, Freihofer and Blepharocheilodontic syndromes, our patient has a combination of features not previously reported.

Pallister-Killian syndrome (PKS): clinical case report.

Pallister-Killian Syndrome is a rare dysmorphic condition characterized by specific clinical manifestations and tetrasomy 12p. This paper focuses on the general and orofacial clinical manifestations.